Global Variome shared LOVD
RHO (rhodopsin)
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Global Variome, with Curator vacancy
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Unique variants in the RHO gene
This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_000539.3 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.
Reported
: The number of times this variant has been reported in the database.
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
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%)
How to query this table
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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'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
329 entries on 4 pages. Showing entries 1 - 100.
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Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
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
Owner
+?/.
3
-
c?
r.spl
p.?
-
likely pathogenic (dominant)
g.?
g.?
RHO 150-bp insertion that disrupts the 5'-splice junction of exon 5
-
RHO_000000
heterozygous
PubMed: Kim 1993
-
-
Germline
yes
-
-
-
-
LOVD
-/., ?/.
4
-
c.-26A>G
r.(?)
p.(=), p.(?)
-
benign, VUS
g.129247551A>G
g.129528708A>G
RHO c.-26 A > G, p.(?), rs7984, RHO(NM_000539.3):c.-26A>G
-
RHO_000006
heterozygous; homozygous in brother, homozygous; heterozygous in brother,
1 more item
PubMed: Donato-2021
-
rs7984
CLASSIFICATION record, Germline
no
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
+/., -/., ?/.
9
1
c.?
r.(=), r.(?)
p.(Q344*), p.?
-
benign, pathogenic, pathogenic (dominant), VUS
g.129247275_129247277delTTT, g.129247376C>T, g.129247746C>T, g.?
-
(Cys323Ser), 170C>T, c.-201C T, c.-300_-302delTTT, p.Q344X, U49742:170C>G, CCC?CGC Leu57Arg,
2 more items
-
RHO_000000
Transmembrane site
PubMed: Lim-2009
,
PubMed: Matsui 2015
,
PubMed: Mezer-2006
,
PubMed: Sohocki 2001
,
PubMed: Sullivan 2006
-
-
Germline, Unknown
yes
-
-
-
-
Julia Lopez
+?/.
1
-
c.8G>A
r.(?)
p.(Gly3Asp)
-
likely pathogenic
g.129247584G>A
g.129528741G>A
-
-
RHO_000132
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
LOVD
+/., +?/.
3
1
c.11C>A
r.(?)
p.(Thr4Lys)
-
likely pathogenic, pathogenic
g.129247587C>A
g.129528744C>A
c.11C>A, Thr4Lys
-
RHO_000037
-
PubMed: Bunge_1993
,
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
,
PubMed: Panneman 2023
-
-
Germline, Unknown
-
1/1204 cases with retinitis pigmentosa
-
-
-
Yoshito Koyanagi
,
Daan Panneman
+?/.
1
-
c.11C>G
r.(?)
p.(Thr4Arg)
-
likely pathogenic (dominant)
g.129247587C>G
g.129528744C>G
RHO T4R
-
RHO_000272
1 more item
PubMed: Krebs_2010
-
-
In vitro (cloned)
?
-
-
-
-
LOVD
+?/., ?/.
2
-
c.14A>C
r.(?)
p.(Glu5Ala)
ACMG
likely pathogenic, VUS
g.129247590A>C
g.129528747A>C
-
-
RHO_000025
ACMG PP3, PM2, PM1, PP2, VKGL data sharing initiative Nederland
PubMed: Weisschuh 2024
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
VKGL-NL_Nijmegen
?/.
1
-
c.16G>A
r.(?)
p.(Gly6Ser)
-
VUS
g.129247592G>A
-
-
-
RHO_000085
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/.
1
-
c.30C>T
r.(?)
p.(Tyr10=)
-
likely benign
g.129247606C>T
-
RHO(NM_000539.3):c.30C>T (p.Y10=)
-
RHO_000221
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/., ?/.
2
-
c.33del
r.(?)
p.(Phe13Serfs*35)
-
pathogenic, VUS
g.129247609del
g.129528766del
c.33delC, p.(Phe13Serfs*35)
-
RHO_000038
error in annotation: c.33delC instead of c.33del, heterozygous
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
,
PubMed: Wang 2019
-
-
Germline
?
1/1204 cases with retinitis pigmentosa
-
-
-
Yoshito Koyanagi
+?/.
1
-
c.34delC
r.(?)
p.(Phe13Serfs*35)
-
likely pathogenic (dominant)
g.129247612del
g.129528769del
RHO c.34delC, p.(Phe13Serfs*35)
-
RHO_000165
heterozygous
PubMed: Wang_2019
-
-
Unknown
?
-
-
-
-
LOVD
+/., ?/.
2
1
c.35C>G
r.(?)
p.(Pro12Arg)
-
pathogenic, VUS
g.129247611C>G
-
c.35C>G
-
RHO_000212
VKGL data sharing initiative Nederland
PubMed: Eisenberger-2013
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
VKGL-NL_Nijmegen
+/., +?/., ?/.
4
1
c.36del
r.(?)
p.(Phe13Serfs*35), p.(Phe13SerfsTer35)
ACMG
likely pathogenic, likely pathogenic (dominant), pathogenic, VUS
g.129247612del
g.129528769del
34delC, c.34del, NM_000539.3:c.36del, NP_000530.1:p.(Phe13SerfsTer35), NC_000003.11:g.129247612del,
1 more item
-
RHO_000165
error in annotation: c.36del causes p.Phe13Serfs*35 and not p.Pro12fs; heterozygous,
2 more items
PubMed: Liu 2015
,
PubMed: Liu 2020
,
PubMed: Wang 2018
,
PubMed: Yang 2015
-
-
Germline, Germline/De novo (untested)
?, no
1/64
-
-
-
LOVD
?/.
1
-
c.38T>C
r.(?)
p.(Phe13Ser)
-
VUS
g.129247614T>C
g.129528771T>C
-
-
RHO_000039
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
-
Germline
-
1/1204 cases with retinitis pigmentosa
-
-
-
Yoshito Koyanagi
+/., +?/.
38
1
c.44A>G
r.(?)
p.(Asn15Ser)
ACMG
likely pathogenic, likely pathogenic (dominant), pathogenic, pathogenic (dominant)
g.129247620A>G
g.129528777A>G
c.44A>G, RHO c.44A>G, p.Asn15Ser, RHO codon: 15, sequence: AAT-AGT, protein: Asn-Ser,
2 more items
-
RHO_000007
heterozygous, solved, heterozygous, VKGL data sharing initiative Nederland
PubMed: Audo 2010
,
PubMed: Fernandez 2014
,
PubMed: Fernandez-San Jose 2015
,
PubMed: Jin 2008
,
9 more items
-
rs104893786
CLASSIFICATION record, Germline, Unknown
?, yes
1/258
-
-
-
Johan den Dunnen
,
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
,
Daan Panneman
+?/.
1
1
c.44A>T
r.(?)
p.(Asn15Ile)
ACMG
likely pathogenic
g.129247620A>T
g.129528777A>T
c.44A>T, p.Asn15Ile
-
RHO_000218
Heterozygous
PubMed: Birtel 2018
-
-
Germline
?
-
-
-
-
LOVD
+?/.
1
-
c.45T>G
r.(?)
p.(Asn15Lys)
-
likely pathogenic (dominant)
g.129247621T>G
g.129528778T>G
RHO c.45T>G p.Asn15Lys
-
RHO_000300
heterozygous - parents not tested
PubMed: Vilela 2018
-
-
Unknown
?
-
-
-
-
LOVD
+/., +?/., ?/.
59
1
c.50C>T
r.(?)
p.(Thr17Met), p.Thr17Met
ACMG
likely pathogenic, likely pathogenic (dominant), pathogenic, pathogenic (dominant), VUS
g.129247626C>T
g.129528783C>T
50C>T, c.50C>T, NM_000539.3:c.50C>T, NP_000530.1:p.(Thr17Met), NC_000003.11:g.129247626C>T,
15 more items
-
RHO_000040
ACMG PM2, PM5, PM1, PP2, PP5_STRONG, heterozygous, marked as causative, heterozygous,
3 more items
PubMed: Bell 1994
,
PubMed: Bunge_1993
,
PubMed: Dryja 1991
,
PubMed: Dryja 2000
,
PubMed: Fernandez 2014
,
25 more items
13018
rs104893769
Germline, In vitro (cloned), Unknown
?, yes
1/336 cases; 0/360 controls, 1/86 cases, 2/258, 3/1204 cases with retinitis pigmentosa, 4/899 cases
-
-
-
Global Variome, with Curator vacancy
,
Johan den Dunnen
,
Julia Lopez
,
Yoshito Koyanagi
-?/.
1
-
c.51G>A
r.(?)
p.(Thr17=)
-
likely benign
g.129247627G>A
g.129528784G>A
RHO(NM_000539.3):c.51G>A (p.T17=)
-
RHO_000008
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/., +?/.
3
-
c.53G>A
r.(?)
p.(Gly18Asp)
ACMG
likely pathogenic, pathogenic
g.129247629G>A
g.129528786G>A
RHO c.53G>A, p.Gly18Asp
-
RHO_000088
conflicting in silico model predictions, heterozygous
PubMed: Comander 2017
,
PubMed: Sharon 2019
,
PubMed: Zampaglione 2020
-
-
Germline, Unknown
?
2/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
+?/.
6
-
c.59T>G
r.(?)
p.(Val20Gly)
-
likely pathogenic (dominant)
g.129247635T>G
g.129528792T>G
RHO c.59T>G, Val20Gly
-
RHO_000273
heterozygous
PubMed: Schuster 2005
-
-
Germline
yes
-
-
-
-
LOVD
+?/.
6
-
c.61C>T
r.(?)
p.(Arg21Cys)
-
likely pathogenic, likely pathogenic (dominant)
g.129247637C>T
g.129528794C>T
RHO p.R21C, RHO(NM_000539.3):c.61C>T (p.R21C)
-
RHO_000066
heterozygous; no nucleotide annotation, extrapolated from protein and databases,
1 more item
PubMed: Yang 2014
-
-
CLASSIFICATION record, Germline
yes
-
-
-
-
VKGL-NL_AMC
+/., +?/.
7
-
c.67C>G
r.(?)
p.(Pro23Ala)
-
likely pathogenic (dominant), pathogenic (dominant)
g.129247643C>G
g.129528800C>G
RHO CCC to GCC, Pro23Ala, RHO P23A
-
RHO_000274
heterozygous; no nucleotide annotation, extrapolated from protein and databases,
1 more item
PubMed: Krebs_2010
,
PubMed: Oh 2000
-
-
Germline, In vitro (cloned)
?, yes
-
-
-
-
LOVD
+/., +?/., -/., ?/.
104
1
c.68C>A
r.(?)
p.(Pro23His)
-
benign, likely pathogenic, likely pathogenic (dominant), pathogenic, pathogenic (dominant), VUS
g.129247644C>A
g.129528801C>A
68C>A, c.68C>A, RHO C-to-A tranversion in codon 23 - proline to histidine, RHO C362A, P23H,
8 more items
-
RHO_000106
heterozygous, heterozygous; no nucleotide annotation, extrapolated from protein and databases,
1 more item
PubMed: Aleman 2008
,
PubMed: Bowne 2011
,
PubMed: Dryja 1990
,
PubMed: Dryja 1991
,
PubMed: Dryja 2000
,
12 more items
-
rs104893768
Germline, In vitro (cloned), Unknown
?, yes
12.11%
-
-
-
Julia Lopez
+/., +?/.
9
-
c.68C>T
r.(?)
p.(Pro23Leu)
-
likely pathogenic (dominant), pathogenic, pathogenic (dominant)
g.129247644C>T
g.129528801C>T
RHO codon 23, sequence: CCC->CTC, amino acid change: Pro->Leu, RHO P23L, RHO Pro23Leu
-
RHO_000026
heterozygous, heterozygous; no nucleotide annotation, extrapolated from protein and databases,
2 more items
PubMed: Alvarez 1999
,
PubMed: Dryja 1991
,
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
,
1 more item
-
-
CLASSIFICATION record, Germline, In vitro (cloned)
?, yes
2/1204 cases with retinitis pigmentosa
-
-
-
VKGL-NL_Nijmegen
,
Yoshito Koyanagi
+?/.
1
-
c.70T>C
r.(?)
p.(Phe24Leu)
-
likely pathogenic
g.129247646T>C
g.129528803T>C
RHO c.70T>C p.(Phe24Leu)
-
RHO_000242
heterozygous
PubMed: Méjécase 2020
-
-
Unknown
?
-
-
-
-
LOVD
?/.
1
-
c.74A>C
r.(?)
p.(Glu25Ala)
-
VUS
g.129247650A>C
-
-
-
RHO_000318
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
-
c.82C>G
r.(?)
p.(Gln28Glu)
-
VUS
g.129247658C>G
g.129528815C>G
-
-
RHO_000041
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
-
Germline
-
2/1204 cases with retinitis pigmentosa
-
-
-
Yoshito Koyanagi
+?/.
5
-
c.82C>T
r.(?)
p.(Gln28*)
-
likely pathogenic (dominant)
g.129247658C>T
g.129528815C>T
RHO c.82C>T, p.(Gln28*)
-
RHO_000301
heterozygous, homozygous
PubMed: Wang_2019
-
-
Germline
yes
-
-
-
-
LOVD
+/., +?/.
3
-
c.83A>G
r.(?)
p.(Gln28Arg)
-
likely pathogenic, pathogenic (dominant)
g.129247659A>G
g.129528816A>G
3:129247659A>G ENST00000296271.3:c.83A>G (Gln28Arg), RHO c.83A>G, p.Gln28Arg,
1 more item
-
RHO_000124
heterozygous
PubMed: Carss 2017
,
PubMed: Jauregui 2020
,
PubMed: Turro 2020
-
-
Germline, Germline/De novo (untested), Unknown
?
-
-
-
-
LOVD
+?/.
5
1
c.84G>C
r.(?)
p.(Gln28His)
ACMG
likely pathogenic, likely pathogenic (dominant), VUS
g.129247660G>C
g.129528817G>C
p.Gln28Hist
-
RHO_000175
-
PubMed: Anasagasti-2013
,
PubMed: Fernandez 2014
,
PubMed: Martin-Merida 2018
-
-
Germline, Germline/De novo (untested)
?, yes
2/258
-
-
-
Jinu Han
+/.
4
1
c.84G>T
r.(?)
p.(Gln28His)
-
pathogenic
g.129247660G>T
g.129528817G>T
Gln28His, RHO(NM_000539.3):c.84G>T (p.Q28H)
-
RHO_000009
VKGL data sharing initiative Nederland
PubMed: Bunge_1993
-
-
CLASSIFICATION record, Unknown
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
+?/.
3
-
c.92T>A
r.(?)
p.(Leu31Gln)
-
likely pathogenic (dominant)
g.129247668T>A
g.129528825T>A
RHO p.L31Q
-
RHO_000287
heterozygous
PubMed: Xiao 2019
-
-
Germline, Unknown
?, yes
-
-
-
-
LOVD
+?/.
4
-
c.116T>G
r.(?)
p.(Met39Arg)
-
likely pathogenic, likely pathogenic (dominant)
g.129247692T>G
g.129528849T>G
RHO c.116T>G (p.M39R), RHO c.116T>G, p.Met39Arg, RHO c.410G>T, p.Met39Arg
-
RHO_000254
error in annotation, p.Met39Arg is caused by c.116T>G and not c.410G>T, heterozygous
PubMed: Davies_2012
,
PubMed: Georgiou 2021
-
-
Germline, Unknown
?
-
-
-
-
LOVD
?/.
1
-
c.119T>C
r.(?)
p.(Leu40Pro)
-
VUS
g.129247695T>C
g.129528852T>C
-
-
RHO_000027
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+?/.
4
-
c.119T>G
r.(?)
p.(Leu40Arg)
-
likely pathogenic (dominant)
g.129247695T>G
g.129528852T>G
RHO codon: 40, sequence: CTG-CGG, protein: Leu-Arg,
1 more item
-
RHO_000264
heterozygous
PubMed: Al-Maghtheh_1994
,
PubMed: Kim 1993
-
-
Germline
yes
-
-
-
-
LOVD
-?/., ?/.
2
-
c.124G>A
r.(?)
p.(Ala42Thr)
-
likely benign, VUS
g.129247700G>A
g.129528857G>A
RHO 124G/A Ala42Thr
-
RHO_000042
heterozygous
PubMed: Ando 2007
,
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs538820015
Germline
yes
1/1204 cases with retinitis pigmentosa
-
-
-
Yoshito Koyanagi
+/., +?/., ?/.
3
1
c.131T>C
r.(?)
p.(Met44Thr)
-
likely pathogenic, pathogenic (dominant), VUS
g.129247707T>C
g.129528864T>C
RHO codon: 44, sequence: ATG-ACG, protein: Met-Thr
-
RHO_000176
1 more item
PubMed: Fernandez 2014
,
PubMed: Martin-Merida 2018
,
PubMed: Reig 1994
-
-
Germline, Unknown
?, yes
1/258
-
-
-
LOVD
+?/.
8
1
c.133T>C
r.(?)
p.(Phe45Leu)
-
likely pathogenic, likely pathogenic (dominant)
g.129247709T>C
g.129528866T>C
Phe45Leu, RHO c.133T>C (p.F45L), RHO C427T, F45L, RHO TTT to CTT, Phe45Leu
-
RHO_000200
heterozygous, heterozygous, inherited from an asymptomatic father,
1 more item
PubMed: Davies_2012
,
PubMed: Dryja 2000
,
PubMed: Matias-Florentino-2009
,
PubMed: Sung 1991
-
-
Germline, Unknown
?, yes
-
-
-
-
LOVD
+/., +?/.
7
1
c.137T>G
r.(?)
p.(Leu46Arg)
-
likely pathogenic, likely pathogenic (dominant), pathogenic (dominant)
g.129247713T>G
g.129528870T>G
137T>G, RHO codon: 46, sequence: CTG-CGG, protein: Leu-Arg, RHO, variant 1: c.137T>G/p.L46R
-
RHO_000107
heterozygous, solved, heterozygous
PubMed: Rodriguez_1993
,
PubMed: Sohocki 2001
,
PubMed: Sullivan 2006
,
PubMed: Weisschuh 2020
-
-
Germline, Unknown
?, yes
-
-
-
-
Julia Lopez
+/., +?/.
11
1
c.151G>C
r.(?)
p.(Gly51Arg)
-
likely pathogenic (dominant), pathogenic, pathogenic (dominant)
g.129247727G>C
g.129528884G>C
c.151G>C, RHO codon: 51, sequence: GGC-CGC, protein: Gly-Arg, RHO GGC to CGC, Gly51Arg,
1 more item
-
RHO_000129
heterozygous, heterozygous; no nucleotide annotation, extrapolated from protein and databases,
1 more item
PubMed: Comander 2017
,
PubMed: Coussa 2015
,
PubMed: Dryja 1992
,
PubMed: Dryja 2000
,
2 more items
-
-
Germline, Unknown
?, yes
3/60 cases
-
-
-
Daan Panneman
+?/.
1
1
c.152G>A
r.(?)
p.(Gly51Asp)
-
likely pathogenic (dominant)
g.129247728G>A
-
c.152G>A
-
RHO_000249
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
LOVD
+?/., -/., ?/.
3
1
c.152G>C
r.(?)
p.(Gly51Ala)
-
benign, likely pathogenic (dominant), VUS
g.129247728G>C
g.129528885G>C
(Gly51Ala)§, RHO codon: 51, sequence: GGC-GCC, protein: G51A, RHO(NM_000539.3):c.152G>C (p.G51A)
-
RHO_000010
heterozygous, VKGL data sharing initiative Nederland
PubMed: Macke_1993
,
PubMed: Mezer-2006
-
-
CLASSIFICATION record, Germline, Unknown
?
-
-
-
-
VKGL-NL_AMC
+?/., ?/.
16
1
c.152G>T
r.(?)
p.(Gly51Val)
-
likely pathogenic, likely pathogenic (dominant), VUS
g.129247728G>T
g.129528885G>T
c.152G>T, RHO codon 51, sequence: GGC->GTC, amino acid change: Gly->Val,
2 more items
-
RHO_000011
heterozygous, solved, heterozygous, VKGL data sharing initiative Nederland
PubMed: Dryja 1991
,
PubMed: Sullivan-2013
,
PubMed: Weisschuh 2020
-
-
CLASSIFICATION record, Germline, Unknown
?, yes
-
-
-
-
VKGL-NL_Rotterdam
+?/.
1
-
c.154T>G
r.(?)
p.(Phe52Val)
ACMG
likely pathogenic (dominant)
g.129247730T>G
g.129528887T>G
-
-
RHO_000157
-
PubMed: Roberts 2016
-
-
Germline
-
-
-
-
-
LOVD
+/., +?/.
13
1
c.158C>G
r.(?)
p.(Pro53Arg)
ACMG
likely pathogenic, likely pathogenic (dominant), pathogenic, pathogenic (dominant)
g.129247734C>G
g.129528891C>G
3:129247734C>G ENST00000296271.3:c.158C>G (Pro53Arg), c.158C>G(p.Pro53Arg), P53R,
6 more items
-
RHO_000089
heterozygous, solved, heterozygous, VKGL data sharing initiative Nederland
PubMed: Beryozkin 2016
,
PubMed: Carss 2017
,
PubMed: Chen-2013
,
PubMed: Davies_2012
,
PubMed: Luo 2020
,
6 more items
-
rs104893775
CLASSIFICATION record, De novo, Germline, Germline/De novo (untested), Unknown
?, yes
1/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
,
VKGL-NL_Nijmegen
+?/.
1
-
c.165C>A
r.(?)
p.(Asn55Lys)
-
likely pathogenic
g.129247741C>A
g.129528898C>A
RHO c.165C>A, p.Asn55Lys
-
RHO_000255
-
PubMed: Georgiou 2021
-
-
Unknown
?
-
-
-
-
LOVD
+/.
1
-
c.170T>G
r.(?)
p.(Leu57Arg)
-
pathogenic (dominant)
g.129247746T>G
g.129528903T>G
-
-
RHO_000162
-
PubMed: Tiwari 2016
-
-
Germline
-
-
-
-
-
LOVD
+/., +?/.
35
1
c.173C>G
r.(?)
p.(Thr58Arg)
ACMG
likely pathogenic, likely pathogenic (dominant), pathogenic, pathogenic (dominant)
g.129247749C>G
g.129528906C>G
173C>G, c.173C>G, RHO C-to-G transverion in the second nucleotide of codon 58 - Thr/Arg,
9 more items
-
RHO_000130
error in annotation, p.Thr58Arg is caused by c.173C>G and not c.467C>G, heterozygous, homozygous,
3 more items
PubMed: Aleman 2008
,
PubMed: Bunge_1993
,
PubMed: Comander 2017
,
PubMed: Dineiro 2020
,
11 more items
-
rs28933394
Germline, Unknown
?, yes
2/258
-
-
-
Julia Lopez
+?/.
1
-
c.173C>T
r.(?)
p.(Thr58Met)
-
likely pathogenic
g.129247749C>T
g.129528906C>T
RHO c.173C>T, p.Thr58Met
-
RHO_000239
heterozygous
PubMed: Liu 2020
-
rs28933394
Germline/De novo (untested)
?
1/64
-
-
-
LOVD
+?/.
1
2
c.173C>T (p.Thr58Met)
r.(?)
p.(Thr58Met)
-
likely pathogenic (dominant)
g.129247749C>T
g.129528906C>T
RHO c.173C>T (p.Thr58Met)
-
RHO_000239
heterozygous
PubMed: Napier 2015
-
-
Unknown
?
0/360 control individuals
-
-
-
LOVD
+?/.
1
-
c.176T>A
r.(?)
p.(Leu59His)
-
likely pathogenic
g.129247752T>A
g.129528909T>A
-
-
RHO_000133
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
LOVD
?/.
1
-
c.178T>C
r.(?)
p.(Tyr60His)
-
VUS
g.129247754T>C
g.129528911T>C
-
-
RHO_000083
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/., +?/.
6
1
c.180C>A
r.(?)
p.(Tyr60*), p.(Tyr60Ter)
ACMG
likely pathogenic, pathogenic
g.129247756C>A
g.129528913C>A
c.180C>A, RHO c.180C>A, p.(Y60*)
-
RHO_000192
-
PubMed: Eisenberger-2013
,
PubMed: Martin-Merida 2018
,
PubMed: Oishi 2014
,
PubMed: Xiao-2021
-
-
Germline, Unknown
?, yes
1/258
-
-
-
LOVD
+/., +?/.
10
1
c.190C>T
r.(?)
p.(Gln64*), p.(Gln64Ter)
ACMG
likely pathogenic, likely pathogenic (dominant), pathogenic
g.129247766C>T
g.129528923C>T
c.190C>T, RHO c.190C>T, p.(Q64*), RHO codon: 64, sequence: CAG-TAG, protein: Q64ter
-
RHO_000067
heterozygous, VKGL data sharing initiative Nederland
PubMed: Macke_1993
,
PubMed: Sullivan-2013
,
PubMed: Xiao-2021
-
-
CLASSIFICATION record, Germline, Unknown
yes
-
-
-
-
VKGL-NL_Nijmegen
+?/.
1
-
c.192G>T
r.(?)
p.(Gln64His)
-
VUS
g.129247768G>T
-
-
-
RHO_000308
-
PubMed: Zanoni 2021
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
2
1
c.196A>T
r.(?)
p.(Lys66*)
-
pathogenic
g.129247772A>T
g.129528929A>T
c.196A>T
-
RHO_000043
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
,
PubMed: Panneman 2023
-
-
Germline, Unknown
-
2/1204 cases with retinitis pigmentosa
-
-
-
Yoshito Koyanagi
,
Daan Panneman
+?/., ?/.
2
-
c.203T>G
r.(?)
p.(Leu68Arg)
ACMG
likely pathogenic, VUS
g.129247779T>G
g.129528936T>G
RHO c.203T>G, p.(Leu68Arg), RHO(NM_000539.3):c.203T>G (p.L68R)
-
RHO_000068
VKGL data sharing initiative Nederland
PubMed: Jespersgaar 2019
-
-
CLASSIFICATION record, Germline
?
-
-
-
-
VKGL-NL_AMC
+/.
1
1
c.204_215del
r.(?)
p.(Arg69_Leu72del)
-
likely pathogenic (dominant)
g.129247780_129247791del
g.129528937_129528948del
codon 68-71, nucleotide: 12 bp del, amino acids deleted: Leu, Arg, Thr, Pro
-
RHO_000261
heterozygous
PubMed: Keen 1991
-
-
Unknown
?
-
-
-
-
LOVD
+?/., ?/.
2
-
c.206G>A
r.(?)
p.(Arg69His)
-
likely pathogenic (dominant), VUS
g.129247782G>A
g.129528939G>A
RHO c.206G>A (p.R69H)
-
RHO_000172
heterozygous
PubMed: Davies_2012
,
PubMed: Xu 2014
-
rs118173887
Germline, Unknown
?
1/314 case chromosomes
-
-
-
LOVD
-/.
1
1
c.209C>T
r.(?)
p.(Thr70Met)
-
benign
g.129247785C>T
-
209C>T
-
RHO_000146
-
PubMed: Sullivan 2006
-
-
Germline
no
-
-
-
-
Julia Lopez
+/.
1
-
c.217_219del
r.(?)
p.(Asn73del)
-
pathogenic (dominant)
g.129247793_129247795del
g.129528950_129528952del
g.312_314delAAC
-
RHO_000313
-
PubMed: De Sousa Dias 2013
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
+?/.
1
-
c.218A>G
r.(?)
p.(Asn73Ser)
-
likely pathogenic
g.129247794A>G
g.129528951A>G
RHO, variant 1: c.218A>G/p.N73S
-
RHO_000240
possibly solved, heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
LOVD
?/.
1
-
c.219C>A
r.(?)
p.(Asn73Lys)
-
VUS
g.129247795C>A
-
RHO(NM_000539.3):c.219C>A (p.N73K)
-
RHO_000309
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/., +?/.
6
1
c.233A>T
r.(?)
p.(Asn78Ile)
-
likely pathogenic, likely pathogenic (dominant), pathogenic
g.129247809A>T
g.129528966A>T
Asn78Ile*, RHO c.233A>T, p.N78I
-
RHO_000044
heterozygous
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
,
PubMed: Matias-Florentino-2009
,
1 more item
-
-
Germline
yes
1/1204 cases with retinitis pigmentosa
-
-
-
Yoshito Koyanagi
+?/.
2
1
c.236T>C
r.(?)
p.(Leu79Pro)
-
likely pathogenic, likely pathogenic (dominant)
g.129247812T>C
g.129528969T>C
-
-
RHO_000177
-
PubMed: Fernandez 2014
,
PubMed: Martin-Merida 2018
-
-
Germline
?
1/258
-
-
-
LOVD
?/.
1
-
c.241G>A
r.(?)
p.(Val81Met)
-
VUS
g.129247817G>A
g.129528974G>A
RHO(NM_000539.3):c.241G>A (p.V81M)
-
RHO_000012
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+?/.
2
1
c.259G>C
r.(?)
p.(Val87Leu)
-
likely pathogenic (dominant)
g.129247835G>C
-
g.129247835G>C, p.Val87Leu
-
RHO_000224
-
PubMed: Anasagasti-2013
-
-
Germline
yes
-
-
-
-
LOVD
+?/.
3
-
c.260T>A
r.(?)
p.(Val87Asp)
-
likely pathogenic, likely pathogenic (dominant)
g.129247836T>A
g.129528993T>A
RHO T554A, V87D
-
RHO_000134
heterozygous
PubMed: Stone 2017
,
PubMed: Sung 1991
-
-
Germline
yes
-
-
-
-
LOVD
+/., +?/.
6
-
c.263T>C
r.(?)
p.(Leu88Pro)
-
likely pathogenic, likely pathogenic (dominant), pathogenic
g.129247839T>C
g.129528996T>C
RHO c.263T>C, p.Leu88Pro
-
RHO_000045
heterozygous
PubMed: Audo 2010
,
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
,
PubMed: Midgley 2024
-
rs1057521112
Germline
yes
1/1204 cases with retinitis pigmentosa
-
-
-
Johan den Dunnen
,
Yoshito Koyanagi
+?/.
5
1
c.265G>C
r.(?)
p.(Gly89Arg)
ACMG
likely pathogenic, likely pathogenic (dominant)
g.129247841G>C
g.129528998G>C
RHO c.265G>C, p.(Gly89Arg ), RHO c.265G>C, p.(Gly89Arg)
-
RHO_000147
-
PubMed: Jespersgaar 2019
,
PubMed: Van Cauwenbergh 2017
-
-
Germline
?
-
-
-
-
LOVD
+/., +?/.
31
1
c.266G>A
r.(?)
p.(Gly89Asp)
ACMG
likely pathogenic, likely pathogenic (dominant), pathogenic
g.129247842G>A
g.129528999G>A
RHO c.266G>A, p.(G89D), RHO c.266G>A, p.G89D, RHO G560A, G89D, RHO GGT to GAT, Gly89Asp,
1 more item
-
RHO_000090
heterozygous, heterozygous; no nucleotide annotation, extrapolated from protein and databases
PubMed: Dryja 1991
,
PubMed: Dryja 2000
,
PubMed: Jauregui 2020
,
PubMed: Jin 2008
,
PubMed: Midgley 2024
,
3 more items
-
rs104893772
Germline, Unknown
?, yes
1/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
,
Johan den Dunnen
+/., +?/., ?/.
31
1
c.269G>A
r.(?)
p.(Gly90Asp)
ACMG
likely pathogenic (dominant), pathogenic, pathogenic (dominant), VUS
g.129247845G>A
g.129529002G>A
RHO codon: 90, sequence: GGC-GAC, protein: Gly-Asp, RHO G90D, RHO p.G90D
-
RHO_000064
ACMG PP3, PM2, PM1, PP2, PP5_STRONG, heterozygous,
2 more items
PubMed: Kobal 2021
,
PubMed: Rao 1994
,
PubMed: Sieving 1995
,
PubMed: Toledo 2011
,
PubMed: Zeitz-2009
,
1 more item
-
rs104893790
Germline, In vitro (cloned)
?, yes
-
-
-
-
Johan den Dunnen
+/., +?/.
6
1
c.269G>T
r.(?)
p.(Gly90Val)
-
likely pathogenic (dominant), pathogenic (dominant)
g.129247845G>T
g.129529002G>T
RHO c.936G>A (p.Gln312Gln), RHO G90V
-
RHO_000275
heterozygous,
1 more item
PubMed: Neidhardt 2006
,
PubMed: Toledo 2011
-
-
Germline, In vitro (cloned)
?, yes
1/78 tested Swiss families; 0/340 ethnically matching control alleles
-
-
-
LOVD
+?/.
1
-
c.275C>T
r.(?)
p.(Thr92Ile)
-
likely pathogenic (dominant)
g.129247851C>T
g.129529008C>T
RHO p.T92I
-
RHO_000288
heterozygous; no nucleotide annotation, extrapolated from protein and databases
PubMed: Shah 2014
-
-
Germline
yes
-
-
-
-
LOVD
+/., ?/.
2
1
c.281C>T
r.(?)
p.(Thr94Ile)
-
pathogenic (dominant), VUS
g.129247857C>T
g.129529014C>T
-
-
RHO_000065
-
PubMed: al-Jandal 1999
,
PubMed: Zeitz-2009
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
+?/.
3
1
c.284T>C
r.(?)
p.(Leu95Pro)
-
likely pathogenic, likely pathogenic (dominant)
g.129247860T>C
g.129529017T>C
c.284T>C, RHO c.284T>C, p.L95P
-
RHO_000302
heterozygous, VKGL data sharing initiative Nederland
PubMed: Panneman 2023
,
PubMed: Roshandel 2019
-
-
CLASSIFICATION record, Germline, Unknown
yes
-
-
-
-
VKGL-NL_Nijmegen
,
Daan Panneman
+?/.
2
1
c.290C>T
r.(?)
p.(Thr97Ile)
-
likely pathogenic, likely pathogenic (dominant)
g.129247866C>T
g.129529023C>T
-
-
RHO_000178
-
PubMed: Fernandez 2014
,
PubMed: Martin-Merida 2018
-
-
Germline
?
1/258
-
-
-
LOVD
?/.
1
-
c.296T>C
r.(?)
p.(Leu99Pro)
-
VUS
g.129247872T>C
g.129529029T>C
-
-
RHO_000046
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
-
Germline
-
1/1204 cases with retinitis pigmentosa
-
-
-
Yoshito Koyanagi
+/., +?/.
2
1
c.302G>A
r.(?)
p.(Gly101Glu)
-
likely pathogenic, pathogenic (recessive)
g.129247878G>A
g.129529035G>A
c.302G>A:p.G101E
-
RHO_000257
-
PubMed: Moon 2021
,
PubMed: Numa-2020
-
-
Germline, Unknown
-
-
-
-
-
Johan den Dunnen
+/.
1
-
c.302G>T
r.(?)
p.(Gly101Val)
-
pathogenic
g.129247878G>T
g.129529035G>T
-
-
RHO_000131
-
PubMed: Comander 2017
-
-
Germline
-
-
-
-
-
LOVD
+?/., -/., -?/., ?/.
10
1
c.310G>A
r.(?)
p.(Val104Ile)
-
benign, likely benign, likely pathogenic, likely pathogenic (dominant), VUS
g.129247886G>A
g.129529043G>A
c.310G>A, c.310G>A, p.Val104Ile, RHO c.310G>A, p.Val104Ile,
1 more item
-
RHO_000047
heterozygous
PubMed: Eisenberger-2013
,
PubMed: Gao 2019
,
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
,
5 more items
-
rs144317206
Germline
?, no, yes
1/314 case chromosomes, 2/1204 cases with retinitis pigmentosa
-
-
-
Johan den Dunnen
,
Yoshito Koyanagi
+/., +?/.
37
1
c.316G>A
r.(?)
p.(Gly106Arg)
ACMG
likely pathogenic, likely pathogenic (dominant), pathogenic, pathogenic (dominant)
g.129247892G>A
g.129529049G>A
c.316G/A, c.316G>A, c.316G>A; p.(Gly106Arg), RHO c.316G>A, (G106R), RHO c.316G>A, p.G106R,
6 more items
-
RHO_000048
ACMG PS1, PM2, PM5, PM1, PP2, PP5, heterozygous, heterozygous, individual solved, variant causal,
1 more item
PubMed: Bareil 1999
,
PubMed: Bravo-Gil 2017
,
PubMed: Budu 2000
,
PubMed: Colombo-2020
,
14 more items
13038
rs104893773
De novo, Germline, Unknown
?, yes
1/1204 cases with retinitis pigmentosa, 2/258
-
-
-
Johan den Dunnen
,
Nereida Bravo Gil
,
Yoshito Koyanagi
+/.
1
1
c.316G>M
r.(?)
p.(Gly106Arg)
-
pathogenic
g.129247892G>M
-
p.Gly106Arg
-
RHO_000205
-
PubMed: Blanco-Kelly-2012
-
-
Unknown
yes
-
-
-
-
LOVD
+/., +?/.
6
1
c.316G>T
r.(?)
p.(Gly106Trp)
-
likely pathogenic (dominant), pathogenic, pathogenic (dominant)
g.129247892G>T
g.129529049G>T
(Gly106Trp), 316G>T, RHO G610T, G106W
-
RHO_000108
heterozygous
PubMed: Mezer-2006
,
PubMed: Sohocki 2001
,
PubMed: Sullivan 2006
,
PubMed: Sung 1991
-
-
Germline
yes
-
-
-
-
Julia Lopez
+/., +?/.
2
1
c.317G>C
r.(?)
p.(Gly106Ala)
ACMG
likely pathogenic (dominant), pathogenic
g.129247893G>C
g.129529050G>C
RHO c.317G>C, p.(G106R), RHO p.G106A
-
RHO_000244
error in annotation, c.317G>C causes p.(Gly106Ala) and not p.(Gly106Arg), heterozygous
PubMed: Xiao 2019
,
PubMed: Xiao-2021
-
-
Unknown
?
-
-
-
-
LOVD
+/.
1
1
c.318G>A
r.(=)
p.(=)
-
pathogenic
g.129247894G>A
-
318G>A(Gly106Arg)
-
RHO_000148
-
PubMed: Sullivan 2006
-
-
Germline
yes
-
-
-
-
Julia Lopez
?/.
1
-
c.319C>T
r.(?)
p.(Pro107Ser)
-
VUS
g.129247895C>T
g.129529052C>T
-
-
RHO_000049
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
-
Germline
-
1/1204 cases with retinitis pigmentosa
-
-
-
Yoshito Koyanagi
+?/.
1
1
c.325G>A
r.(?)
p.(Gly109Arg)
-
likely pathogenic (dominant)
g.129247901G>A
g.129529058G>A
RHO G to A transition in codon 109, substitution of glycine with arginine
-
RHO_000276
heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases
PubMed: Goliath 1998
-
-
Germline
yes
-
-
-
-
LOVD
+/., +?/.
7
1
c.328T>C
r.(?)
p.(Cys110Arg)
-
likely pathogenic, likely pathogenic (dominant), pathogenic
g.129247904T>C
g.129529061T>C
c.328T>C, RHO c.328T>C, p.C110R, RHO Cys110Arg
-
RHO_000125
heterozygous, heterozygous; no nucleotide annotation, extrapolated from protein and databases
PubMed: Jauregui 2020
,
PubMed: Panneman 2023
,
PubMed: Taylor 2017
,
PubMed: To 2004
-
-
Germline, Unknown
?
-
-
-
-
Daan Panneman
+/., +?/.
13
1
c.329G>A
r.(?)
p.(Cys110Tyr)
-
likely pathogenic (dominant), pathogenic (dominant)
g.129247905G>A
g.129529062G>A
c.329G>A, RHO C110Y, RHO codon: 110, sequence: TGC - TAC, protein: Cys-Tyr, RHO Cys110Tyr,
1 more item
-
RHO_000250
heterozygous,
2 more items
PubMed: Colombo-2020
,
PubMed: Dryja 1992
,
PubMed: Krebs_2010
,
PubMed: Milla 1998
,
1 more item
-
rs104893787
Germline, In vitro (cloned), Unknown
?, yes
-
-
-
-
LOVD
+?/.
2
-
c.329G>C
r.(?)
p.(Cys110Phe), p.(Cys110Ser)
-
likely pathogenic (dominant)
g.129247905G>C
g.129529062G>C
RHO codon: 110, sequence: TGC-TCC, protein: Cys-Phe, RHO p.C110S
-
RHO_000265
heterozygous, heterozygous; no nucleotide annotation, extrapolated from protein and databases
PubMed: Fuchs 1994
,
PubMed: Yang 2014
-
-
Germline, Unknown
?, yes
-
-
-
-
LOVD
+/.
2
1
c.329G>T
r.(?)
p.(Cys110Phe)
-
pathogenic, pathogenic (dominant)
g.129247905G>T
-
329G>T
-
RHO_000109
Disulfide bond
PubMed: Sohocki 2001
,
PubMed: Sullivan 2006
-
-
Germline
yes
-
-
-
-
Julia Lopez
?/.
1
-
c.332A>G
r.(?)
p.(Asn111Ser)
-
VUS
g.129247908A>G
-
RHO(NM_000539.3):c.332A>G (p.N111S)
-
RHO_000222
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/.
6
1
c.337G>A
r.(?)
p.(Glu113Lys)
-
likely pathogenic (dominant)
g.129247913G>A
g.129529070G>A
RHO c.337G>A, p.E113K
-
RHO_000289
heterozygous
PubMed: Reiff 2016
-
-
Germline
yes
-
-
-
-
LOVD
+?/.
1
1
c.340G>C
r.(?)
p.(Gly114Arg)
-
likely pathogenic (dominant)
g.129247916G>C
-
c.340G>C
-
RHO_000251
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
LOVD
+?/.
4
-
c.341G>A
r.(?)
p.(Gly114Asp)
-
likely pathogenic, likely pathogenic (dominant)
g.129247917G>A
g.129529074G>A
RHO codon: 114, sequence: GGC-GAC, protein: Gly-Asp
-
RHO_000135
heterozygous
PubMed: Stone 2017
,
PubMed: Vaithinathan 1994
-
-
Germline
yes
-
-
-
-
LOVD
+?/.
5
-
c.341G>T
r.(?)
p.(Gly114Val)
-
likely pathogenic (dominant)
g.129247917G>T
g.129529074G>T
RHO GGC to GTC, Gly114Val
-
RHO_000277
heterozygous; no nucleotide annotation, extrapolated from protein and databases
PubMed: Dryja 2000
-
-
Germline
yes
-
-
-
-
LOVD
+/.
1
1
c.341_343del
r.(?)
p.(Gly114_Phe115delinsVal)
-
pathogenic
g.129247917_129247919del
-
341_343del (8-bp del) (p.341_343del)
-
RHO_000206
-
PubMed: Bunge_1993
-
-
Unknown
-
-
-
-
-
LOVD
-/., -?/.
3
1
c.360C>T
r.(=), r.(?)
p.(=), p.(Gly120=)
-
benign, likely benign
g.129247936C>T
g.129529093C>T
RHO(NM_000539.3):c.360C>T (p.G120=)
-
RHO_000013
VKGL data sharing initiative Nederland
PubMed: Sohocki 2001
-
-
CLASSIFICATION record
-
-
-
-
-
Julia Lopez
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
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