Global Variome shared LOVD
HSF4 (heat shock transcription factor 4)
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This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_001374675.1 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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67 entries on 1 page. Showing entries 1 - 67.
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Legend
How to query
Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
+/.
-
c.?
r.spl?
p.?
Unknown
-
pathogenic (dominant)
g.67197914C>G
g.67164011C>G
-497-8C>G
-
HSF4_000037
-
PubMed: Zhai 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
CTRCT
Fam6
PubMed: Zhai 2017
4-generation family, 2 affected (F, M)
F
-
China
-
-
-
-
-
2
Johan den Dunnen
+/.
3
c.56C>A
r.(?)
p.(Ala19Asp)
Unknown
-
likely pathogenic (dominant)
g.67198770C>A
g.67164867C>A
-
-
HSF4_000002
-
PubMed: Bu 2002
,
OMIM:var0003
-
-
De novo
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
FamIIPatII1
PubMed: Bu 2002
2-generation family, 1 affected, unaffected non-carrier parents
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.56C>A
-
p.Ala19Asp
Unknown
-
NA
g.67198770C>A
g.67164867C>A
A20D
-
HSF4_000002
markedly inhibited HSF4b oligomerization, inhibits transcription activation ability of HSF4b due to defective HSE-binding
PubMed: Enoki 2010
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
3
c.69G>T
r.(?)
p.(Lys23Asn)
Unknown
-
likely pathogenic
g.67198783G>T
g.67164880G>T
-
-
HSF4_000018
-
PubMed: Lv 2014
-
-
Germline
-
-
-
-
-
DNA, protein
arraySNP
-
-
CTRCT
-
PubMed: Lv 2014
family, 10 affected individuals
-
-
China
-
-
-
-
-
10
Deepti Anand
+?/.
-
c.88dup
r.(?)
p.(Asp30GlyfsTer37)
Unknown
-
likely pathogenic (dominant)
g.67198802dup
g.67164899dup
83_84insG
-
HSF4_000047
-
PubMed: Liu 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
792 gene panel
CTRCT
Fam122Pat325
PubMed: Liu 2023
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+?/.
3
c.103C>T
r.(?)
p.(His35Tyr)
Parent #1
-
likely pathogenic
g.67198817C>T
g.67164914C>T
-
-
HSF4_000020
-
PubMed: Gillespie 2014
,
Journal: Gillespie 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
CCTRCT
-
PubMed: Gillespie 2014
,
Journal: Gillespie 2014
has affected mother
F
no
-
-
-
-
-
-
2
Johan den Dunnen
-?/.
3i
c.123+9C>T
r.(?)
p.(=)
Maternal (confirmed)
-
likely benign
g.67198846C>T
g.67164943C>T
IVS1+9C>T
-
HSF4_000044
variant in 6/96 controls Germany
PubMed: Santhiya 2010
-
-
Germline
no
-
-HaeIII
-
-
DNA
SEQ
-
gene panel
CTRCT
FamJEE13PatIII4
PubMed: Santhiya 2010
3-generation family, 4 affected (2F, 2M)
F
-
India
-
-
-
-
-
4
Johan den Dunnen
?/.
-
c.179C>A
r.(?)
p.(Pro60His)
Parent #1
-
VUS
g.67199480C>A
g.67165577C>A
-
-
HSF4_000038
-
PubMed: Li 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
CTRCT
Pat57
PubMed: Li 2016
-
-
-
China
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.179C>T
r.(?)
p.(Pro60Leu)
Unknown
-
likely pathogenic
g.67199480C>T
g.67165577C>T
HSF4(NM_001040667.2):c.179C>T(p.P60H)
-
HSF4_000033
-
PubMed: Sun 2018
-
-
Germline/De novo (untested)
?
105
-
-
-
DNA
SEQ-NG-I
blood
-
?
WHP5
PubMed: Sun 2018
-
M
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.182A>G
r.(?)
p.(Gln61Arg)
Unknown
-
likely pathogenic
g.67199483A>G
g.67165580A>G
1078A>G
-
HSF4_000006
-
PubMed: Shi 2008
-
-
Germline
-
-
-
-
-
DNA, protein
arraySNP
-
-
CTRCT
-
PubMed: Shi 2008
-
-
-
-
-
-
-
-
-
150
Deepti Anand
-?/.
-
c.182A>G
-
p.Gln61Arg
Unknown
-
NA
g.67199483A>G
g.67165580A>G
Q62R
-
HSF4_000006
has marginal effects on lens protein gene expression by HSF4b in lens epithelial cells
PubMed: Enoki 2010
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.187T>C
r.(?)
p.(Phe63Leu)
Parent #1
-
pathogenic
g.67199488T>C
g.67165585T>C
-
-
HSF4_000013
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
-
-
-
no
-
-
-
-
-
-
1
Juhua Yang
+?/.
-
c.187T>C
r.(?)
p.(Phe63Leu)
Parent #1
ACMG
likely pathogenic (dominant)
g.67199488T>C
g.67165585T>C
-
-
HSF4_000013
-
PubMed: Cao 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
CTRCT
CAT-51
PubMed: Cao 2018
3-generation family, 4 affected (2F, 2M)
F;M
-
China
-
-
-
-
-
4
Johan den Dunnen
+/.
-
c.190A>G
r.(?)
p.(Lys64Glu)
Parent #1
-
pathogenic (dominant)
g.67199491A>G
g.67165588A>G
-
-
HSF4_000035
-
PubMed: Berry 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
CTRCT
family
PubMed: Berry 2018
5-generation family, 13 affected (4F, 9M)
F;M
-
United Kingdom (Great Britain)
-
-
-
-
-
13
Johan den Dunnen
?/.
-
c.193C>T
r.(?)
p.(His65Tyr)
Parent #1
-
VUS
g.67199494C>T
g.67165591C>T
-
-
HSF4_000045
VUS PM2, PP3
PubMed: Kessel 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
CTRCT
CC0000888
PubMed: Kessel 2021
patient
-
-
Denmark
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.218G>A
r.(?)
p.(Arg73His)
Unknown
-
likely pathogenic
g.67199519G>A
g.67165616G>A
221G>A (Arg74His)
-
HSF4_000007
-
PubMed: Ke 2006
-
-
Germline
?
-
-
-
-
DNA, protein
arraySNP
-
-
CTRCT
-
PubMed: Ke 2006
-
-
-
China
-
-
-
-
-
7
Deepti Anand
+/.
-
c.218G>A
-
p.Arg73His
Unknown
-
NA
g.67199519G>A
g.67165616G>A
R74H
-
HSF4_000007
does not affect HSF4b trimerization, inhibits transcription activation ability of HSF4b due to defective HSE-binding
PubMed: Enoki 2010
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.218G>T
r.(?)
p.(Arg73Leu)
Paternal (confirmed)
-
pathogenic
g.67199519G>T
g.67165616G>T
-
-
HSF4_000001
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
-
1 familie, 2 patients
M
-
China
Han
-
-
-
-
1
Juhua Yang
+?/.
-
c.218G>T
r.(?)
p.(Arg73Leu)
Parent #1
ACMG
likely pathogenic (dominant)
g.67199519G>T
g.67165616G>T
-
-
HSF4_000001
-
PubMed: Cao 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
CTRCT
CAT-12
PubMed: Cao 2018
2-generation family, 2 affected (2M)
M
-
China
-
-
-
-
-
2
Johan den Dunnen
+/.
4i
c.233-1G>A
r.(?)
p.?
Parent #1
-
pathogenic
g.67199621G>A
g.67165718G>A
IVS5-1G>A
-
HSF4_000014
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
-
-
F
no
China
-
-
-
-
-
1
Juhua Yang
+/.
-
c.233-1G>A
r.spl
p.?
Parent #1
ACMG
pathogenic (dominant)
g.67199621G>A
g.67165718G>A
-
-
HSF4_000014
-
PubMed: Cao 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
CTRCT
CAT-50
PubMed: Cao 2018
3-generation family, 3 affected (F, 2M)
F;M
-
China
-
-
-
-
-
3
Johan den Dunnen
+/.
5
c.233A>G
r.(?)
p.(Tyr78Cys)
Parent #1
-
pathogenic
g.67199622A>G
g.67165719A>G
-
-
HSF4_000012
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
-
-
M
-
China
-
-
-
-
-
1
Juhua Yang
+?/.
-
c.233A>G
r.(?)
p.(Tyr78Cys)
Parent #1
ACMG
likely pathogenic (dominant)
g.67199622A>G
g.67165719A>G
-
-
HSF4_000012
-
PubMed: Cao 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
CTRCT
CAT-37
PubMed: Cao 2018
2-generation family, 2 affected (F, M)
F;M
-
China
-
-
-
-
-
2
Johan den Dunnen
+/.
5
c.256A>G
r.(?)
p.(Ile86Val)
Paternal (confirmed)
-
pathogenic
g.67199645A>G
g.67165742A>G
-
-
HSF4_000003
-
PubMed: Bu 2002
,
OMIM:var0004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
Fam
PubMed: Bu 2002
2-generation family, affected father/child
-
-
China
-
-
-
-
-
2
Johan den Dunnen
-?/.
-
c.256A>G
-
p.Ile86Val
Unknown
-
NA
g.67199645A>G
g.67165742A>G
I87V
-
HSF4_000003
has marginal effects on lens protein gene expression by HSF4b in lens epithelial cells
PubMed: Enoki 2010
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
5
c.314G>C
r.(?)
p.(Ser105Thr)
Parent #1
-
pathogenic
g.67199703G>C
g.67165800G>C
-
-
HSF4_000011
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
-
-
M
no
China
-
-
-
-
-
1
Juhua Yang
+?/.
-
c.314G>C
r.(?)
p.(Ser105Thr)
Parent #1
ACMG
likely pathogenic (dominant)
g.67199703G>C
g.67165800G>C
-
-
HSF4_000011
-
PubMed: Cao 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
CTRCT
CAT-02
PubMed: Cao 2018
3-generation family, 6 affected (4F, 2M)
F;M
-
China
-
-
-
-
-
6
Johan den Dunnen
+?/.
5
c.314G>C
r.(?)
p.(Ser105Thr)
Unknown
-
likely pathogenic (dominant)
g.67199703G>C
g.67165800G>C
-
-
HSF4_000011
-
PubMed: Liu 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
792 gene panel
CTRCT
Fam93Pat256
PubMed: Liu 2023
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+?/.
4
c.328C>T
r.(?)
p.(Arg110Cys)
Unknown
-
likely pathogenic
g.67199717C>T
g.67165814C>T
331C>T (Arg111Cys)
-
HSF4_000019
-
PubMed: Liu 2015
-
-
Germline
?
-
-
-
-
DNA, protein
arraySNP
-
-
CTRCT
-
PubMed: Liu 2015
-
-
-
China
-
-
-
-
-
8
Deepti Anand
+/.
-
c.328C>T
-
p.Arg110Cys
Unknown
-
NA
g.67199717C>T
g.67165814C>T
R120C
-
HSF4_000019
markedly inhibited HSF4b oligomerization, inhibits transcription activation ability of HSF4b due to defective HSE-binding
PubMed: Enoki 2010
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.341T>A
r.(?)
p.(Leu114Gln)
Paternal (confirmed)
-
pathogenic (dominant)
g.67199730T>A
g.67165827T>A
-
-
HSF4_000039
-
PubMed: Jiao 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
CTRCT
Fam97001Pat3
PubMed: Jiao 2022
2-generation family, affected father and 2 sons
M
-
Ukraine
-
-
-
-
-
3
Johan den Dunnen
+/.
-
c.341T>A
r.(?)
p.(Leu114Gln)
Paternal (confirmed)
-
pathogenic (dominant)
g.67199730T>A
g.67165827T>A
-
-
HSF4_000039
-
PubMed: Jiao 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
CTRCT
Fam97001Pat4
PubMed: Jiao 2022
son
M
-
Ukraine
-
-
-
-
-
1
Johan den Dunnen
+/.
5
c.341T>C
r.(?)
p.(Leu114Pro)
Parent #1
-
pathogenic
g.67199730T>C
g.67165827T>C
348C>T (Leu115Pro)
-
HSF4_000004
-
PubMed: Bu 2002
,
Journal: Bu 2002
,
OMIM:var0001
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
CTRCT5
FamI
PubMed: Bu 2002
,
Journal: Bu 2002
5-generation family, 31 affecteds (13F, 18M), unaffected heterozygous carrier parents
F;M
no
China
-
-
-
-
-
31
Johan den Dunnen
+?/.
-
c.341T>C
r.(?)
p.(Leu114Pro)
Parent #1
ACMG
likely pathogenic (dominant)
g.67199730T>C
g.67165827T>C
-
-
HSF4_000004
ACMG PS3, PS4mod, PM2, PP3
PubMed: Hansen 2009
,
PubMed: Kessel 2021
VCV000007092.1
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
CTRCT
CC00128
PubMed: Hansen 2009
,
PubMed: Kessel 2021
4-generation family, 15 affected (8F, 7M)
F;M
-
Denmark
-
-
-
-
-
15
Johan den Dunnen
+/.
-
c.341T>C
-
p.Leu114Pro
Unknown
-
NA
g.67199730T>C
g.67165827T>C
L115P
-
HSF4_000004
markedly inhibited HSF4b oligomerization, inhibits transcription activation ability of HSF4b due to defective HSE-binding
PubMed: Enoki 2010
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.347G>A
r.(?)
p.(Arg116His)
Unknown
-
likely pathogenic
g.67199736G>A
g.67165833G>A
1243G>A (Arg116His)
-
HSF4_000008
-
PubMed: Shi 2008
-
-
Germline
?
-
-
-
-
DNA, protein
arraySNP
-
-
CTRCT
-
PubMed: Shi 2008
-
-
-
-
-
-
-
-
-
150
Deepti Anand
-?/.
-
c.347G>A
-
p.Arg116His
Unknown
-
NA
g.67199736G>A
g.67165833G>A
R117H
-
HSF4_000008
has marginal effects on lens protein gene expression by HSF4b in lens epithelial cells
PubMed: Enoki 2010
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
5
c.355C>T
r.(?)
p.(Arg119Cys)
Parent #1
-
pathogenic (dominant)
g.67199744C>T
g.67165841C>T
362C>T
-
HSF4_000005
-
PubMed: Bu 2002
,
PubMed: Kessel 2021
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
CTRCT
Fam;FamDenmark;CC00101
PubMed: Marner 1989
,
PubMed: Bu 2002
,
PubMed: Kessel 2021
9-generation family, 17 affected
F;M
-
Denmark
-
-
-
-
-
17
Johan den Dunnen
+/.
-
c.355C>T
r.(?)
p.(Arg119Cys)
Maternal (confirmed)
-
pathogenic (dominant)
g.67199744C>T
g.67165841C>T
-
-
HSF4_000005
-
PubMed: Hansen 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
CTRCT
CC00171
PubMed: Hansen 2009
2-generation family, affected mother/dauhter
F
-
Denmark
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.356G>A
r.(?)
p.(Arg119His)
Unknown
ACMG
pathogenic (dominant)
g.67199745G>A
g.67165842G>A
-
-
HSF4_000040
ACMG PM1 PM2 PP1 PP2 PP3 PP4 BP1
PubMed: Li 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
CTRCT
Fam5PatIV12
PubMed: Li 2019
6-generation family, 20 affected (9F, 11M)
M
-
China
-
-
-
-
-
20
Johan den Dunnen
?/.
-
c.356G>T
r.(?)
p.(Arg119Leu)
Parent #1
-
VUS
g.67199745G>T
g.67165842G>T
-
-
HSF4_000046
VUS PM2, PM5, PP3
PubMed: Kessel 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
CTRCT
CC00111
PubMed: Kessel 2021
patient
-
-
Denmark
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.360+1G>A
r.(?)
p.?
Paternal (confirmed)
-
VUS
g.67199750G>A
g.67165847G>A
HSF4 c.360+1G>A, -
-
HSF4_000032
heterozygous, present in affected father
PubMed: Bell 2021
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
targeted next-generation sequencing
retinal disease
10
PubMed: Bell 2021
-
M
no
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+/.
-
c.360+1G>A
r.spl
p.?
Unknown
-
pathogenic (dominant)
g.67199750G>A
g.67165847G>A
-
-
HSF4_000032
-
PubMed: Jackson 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
Fam32PatI
PubMed: Jackson 2020
-
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.433G>C
r.(?)
p.(Ala145Pro)
Both (homozygous)
-
pathogenic (recessive)
g.67199921G>C
g.67166018G>C
-
-
HSF4_000026
-
PubMed: Chen 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
CTRCT
Fam60074
PubMed: Chen 2017
4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives
F;M
-
-
-
-
-
-
-
3
Johan den Dunnen
?/.
-
c.479T>G
r.(?)
p.(Leu160Arg)
Both (homozygous)
ACMG
VUS
g.67199967T>G
g.67166064T>G
HSF4 c.479T>G p.(Leu160Arg) hom
-
HSF4_000029
homozygous
PubMed: Lenassi 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
114 genes panel tested
retinal disease
15014851
PubMed: Lenassi 2020
retrospective analysis
F
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+?/.
-
c.486-2A>G
r.spl
p.?
Maternal (confirmed)
-
likely pathogenic (recessive)
g.67200221A>G
g.67166318A>G
NM_001040667.2:c.486-2A>G
-
HSF4_000041
-
PubMed: Fernandez-Alcalde 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
CTRCT
Fam27
PubMed: Fernandez-Alcalde 2021
2-generation family, 1 affected, unaffected heterozygous parents
F
-
Spain
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.503G>A
r.(?)
p.(Trp168Ter)
Unknown
ACMG
pathogenic
g.67200240G>A
g.67166337G>A
HSF4 c.503G>A p.(Trp168Ter) het HSF4 c.1188+1G>A het
-
HSF4_000030
heterozygous
PubMed: Lenassi 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
144 genes panel tested
retinal disease
17003685
PubMed: Lenassi 2020
retrospective analysis
F
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+/.
-
c.521T>C
r.(?)
p.(Leu174Pro)
Both (homozygous)
-
pathogenic (recessive)
g.67200258T>C
g.67166355T>C
-
-
HSF4_000036
-
PubMed: Behnam 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
CTRCT
family
PubMed: Behnam 2016
6-generation family, 2 affected brothers, unaffected heterozygous parents/relatives
M
-
Iran
-
-
-
-
-
2
Johan den Dunnen
+?/.
7
c.524G>C
r.(?)
p.(Arg175Pro)
Both (homozygous)
-
likely pathogenic
g.67200261G>C
g.67166358G>C
-
-
HSF4_000009
-
PubMed: Forshew 2005
-
-
Germline
yes
-
-
-
-
DNA, protein
arraySNP
-
-
CTRCT
-
PubMed: Forshew 2005
-
-
-
Pakistan
-
-
-
-
-
5
Deepti Anand
+?/.
-
c.524G>C
r.(?)
p.(Arg175Pro)
Both (homozygous)
-
likely pathogenic (recessive)
g.67200261G>C
g.67166358G>C
-
-
HSF4_000009
-
PubMed: Forshew 2005
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
CTRCT
FamC
PubMed: Forshew 2005
4-generation family, 5 affected brothers/sister (2F, 3M), unaffected heterozygous parents/relatives
F;M
yes
Pakistan
-
-
-
-
-
5
Johan den Dunnen
+/.
-
c.524G>C
-
p.Arg175Pro
Unknown
-
NA
g.67200261G>C
g.67166358G>C
R176P
-
HSF4_000009
inhibits transcription activation ability of HSF4b due to defective HSE-binding
PubMed: Enoki 2010
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.558C>T
r.(?)
p.(Gly186=)
Both (homozygous)
-
likely pathogenic
g.67200295C>T
g.67166392C>T
HSF4(NM_001040667.2):c.558C>T(p.G186G)
-
HSF4_000034
-
PubMed: Sun 2018
-
-
Germline/De novo (untested)
?
113
-
-
-
DNA
SEQ-NG-I
blood
-
?
WHP13
PubMed: Sun 2018
-
F
-
China
-
-
-
-
-
1
LOVD
+?/.
8
c.596_600del
r.(?)
p.(Gly199GlufsTer15)
Both (homozygous)
-
likely pathogenic
g.67200495_67200499del
g.67166592_67166596del
595_599delGGGCC
-
HSF4_000015
-
PubMed: Forshew 2005
-
-
Germline
yes
-
-
-
-
DNA, protein
arraySNP
-
-
?
-
PubMed: Forshew 2005
-
-
-
Pakistan
-
-
-
-
-
5
Deepti Anand
+?/.
-
c.596_600del
r.(?)
p.(Gly199GlufsTer15)
Both (homozygous)
-
likely pathogenic (recessive)
g.67200495_67200499del
g.67166592_67166596del
595_599delGGGCC
-
HSF4_000015
-
PubMed: Forshew 2005
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
CTRCT
FamD
PubMed: Forshew 2005
4-generation family, 5 affected (F, 4M), unaffected heterozygous parents/relatives
F;M
yes
Pakistan
-
-
-
-
-
5
Johan den Dunnen
+/.
-
c.596_600del
-
p.Gly199GlufsTer15
Unknown
-
NA
g.67200495_67200499del
g.67166592_67166596del
595_599delGGGCC
-
HSF4_000015
cDNA expression cloning shows normal protein stability, normal subcellular localization and significantly reduced transactivation potential
PubMed: Merath 2013
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
7
c.636G>T
r.(?)
p.(Met212Ile)
Unknown
-
benign
g.67201032G>T
g.67167129G>T
-
-
FBXL8_000003
not in 340 control chromosomes
PubMed: Cao 2018
-
-
Germline
-
1/34 chromosomes cases CTRCT
-
-
-
DNA
SEQ
-
-
CTRCT
CC00109
PubMed: Cao 2018
-
-
-
Denmark
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.636G>T
r.(?)
p.(Met212Ile)
Parent #1
-
VUS
g.67201032G>T
g.67167129G>T
-
-
FBXL8_000003
-
PubMed: Reis 2013
-
-
Germline
no
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
CTRCT
Pat12
PubMed: Reis 2013
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.966G>T
r.(?)
p.(Pro322=)
Unknown
-
likely benign
g.67201734G>T
-
HSF4(NM_001040667.2):c.966G>T (p.P322=)
-
FBXL8_000016
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.1188+1G>A
r.(?)
p.?
Unknown
ACMG
pathogenic
g.67202840G>A
g.67168937G>A
HSF4 c.503G>A p.(Trp168Ter) het HSF4 c.1188+1G>A het
-
HSF4_000031
different transcript: NM_001040667.2(HSF4):c.1188+1G>A; compound heterozygous
PubMed: Lenassi 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
144 genes panel tested
retinal disease
17003685
PubMed: Lenassi 2020
retrospective analysis
F
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+/.
13
c.1213C>T
r.(?)
p.(Arg405Ter)
Both (homozygous)
-
pathogenic (recessive)
g.67202963C>T
g.67169060C>T
-
-
HSF4_000016
-
PubMed: Sajjad 2008
-
-
Germline
yes
-
-
-
-
DNA, protein
arraySNP
-
-
CTRCT
BUIT-CA01
PubMed: Sajjad 2008
4-generation family, 8 affected (5F, 3M), unaffected heterozygous parents/relatives
F;M
yes
Afghanistan;Pakistan
-
-
-
-
-
8
Deepti Anand
+/.
-
c.1213C>T
-
p.Arg405Ter
Unknown
-
NA
g.67202963C>T
g.67169060C>T
c.1213C>T
-
HSF4_000016
cDNA expression cloning shows normal protein stability, normal subcellular localization and significantly reduced transactivation potential
PubMed: Merath 2013
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1255-61_1255-57del
r.(=)
p.(=)
Unknown
-
VUS
g.67203121_67203125del
-
-
-
FBXL8_000017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.1255_1324del
-
p.Met419GlufsTer29
Unknown
-
NA
g.67203255A>G
g.67169352A>G
1327+4A>G
-
HSF4_000017
variant linked to c.1324+4A>G; cDNA expression cloning shows normal protein stability, normal subcellular localization and significantly reduced transactivation potential
PubMed: Merath 2013
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.1305del
r.(?)
p.(Leu436Ter)
Paternal (confirmed)
-
likely pathogenic (recessive)
g.67203232del
g.67169329del
NM_001040667.2:c.1302delG
-
HSF4_000042
-
PubMed: Fernandez-Alcalde 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
CTRCT
Fam27
PubMed: Fernandez-Alcalde 2021
2-generation family, 1 affected, unaffected heterozygous parents
F
-
Spain
-
-
-
-
-
1
Johan den Dunnen
+/.
14i
c.1324+4A>G
r.(?)
p.?
Both (homozygous)
-
pathogenic
g.67203255A>G
g.67169352A>G
1327+4A>G (Met419GlyfsX29)
-
HSF4_000017
-
PubMed: Smaoui 2004
-
-
Germline
yes
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
CTRCT
-
PubMed: Smaoui 2004
-
-
-
Tunisia
-
-
-
-
-
22
Deepti Anand
+/.
14i
c.1324+4A>G
r.1255_1324del
p.Met419GlufsTer29
Both (homozygous)
-
pathogenic (recessive)
g.67203255A>G
g.67169352A>G
1327+4A>G
-
HSF4_000017
-
PubMed: Smaoui 2004
-
-
Germline
yes
-
-
-
-
DNA, RNA
arraySNP, RT-PCR, SEQ
-
-
CTRCT
family
PubMed: Smaoui 2004
8-generation family, 22 affected (14F, 8M)
F;M
yes
Tunisia
-
-
-
-
-
22
Johan den Dunnen
+/.
-
c.1475C>T
r.(?)
p.(Pro492Leu)
Unknown
-
pathogenic (dominant)
g.67203684C>T
g.67169781C>T
C1475T
-
HSF4_000043
-
PubMed: Zhang 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
CTRCT
WCC18PatII2
PubMed: Zhang 2018
2-generation family, 4 affected (2F, 2M)
M
-
China
-
-
-
-
-
4
Johan den Dunnen
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