Global Variome shared LOVD
SLC17A5 (solute carrier family 17 (anion/sugar tra...))
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Unique variants in the SLC17A5 gene
The variants shown are described using the NM_012434.4 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)
association
unclassified
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.
46 entries on 1 page. Showing entries 1 - 46.
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Legend
How to query
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
./.
1
-
c.-2451640_*595735del
r.0?
p.0?
-
pathogenic
g.73709065_76815249del
-
-
-
KHDC3L_000005
decreased gene dosage
PubMed: DDDS 2015
,
Journal: DDDS 2015
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/.
1
-
c.-174dup
r.(?)
p.(=)
-
benign
g.74363787dup
g.73654064dup
SLC17A5(NM_012434.4):c.-174dupG
-
SLC17A5_000039
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
1
-
c.85G>A
r.(?)
p.(Ala29Thr)
-
likely benign
g.74363525C>T
-
SLC17A5(NM_012434.4):c.85G>A (p.(Ala29Thr))
-
SLC17A5_000042
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
+/+
1
1i
c.95-1G>C
r.95_291del
p.Ala32Glyfs*2
-
pathogenic
g.74354327C>G
g.73644604C>G
cDNA 95-1G>C: Removes splice site, deletion of exon 2 (95–291del)
-
SLC17A5_000001
1 Swedish SD patient (com-het)
PubMed: Aula et al. 2000
-
-
SUMMARY record
yes
-
-
-
-
Anne Polvi
+/+, +/.
4
2
c.115C>T
r.(?), r.115c>t
p.(Arg39Cys), p.Arg39Cys
-
pathogenic
g.74354306G>A
g.73644583G>A
R39C, in loop before TM domain 1,
1 more item
-
SLC17A5_000002
1 heterozygous, no homozygous;
Clinindb (India)
, VKGL data sharing initiative Nederland,
1 more item
PubMed: Narang 2020
,
Journal: Narang 2020
,
1 more item
-
rs80338794
CLASSIFICATION record, Germline, SUMMARY record
yes
0/100 FIN CON, 1/2795 individuals
-
-
-
Anne Polvi
,
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
Mohammed Faruq
+/., +?/.
3
-
c.116G>A
r.(?)
p.(Arg39His)
ACMG
likely pathogenic, likely pathogenic (recessive), pathogenic
g.74354305C>T
g.73644582C>T
-
-
SLC17A5_000017
-
PubMed: Trujillano 2017
-
-
De novo, Germline
-
-
-
-
-
Daniel Trujillano
,
Alejandro Brea-Fernández
,
Muhammad Umair
-/.
1
-
c.246G>A
r.(?)
p.(Ala82=)
-
benign
g.74354175C>T
g.73644452C>T
SLC17A5(NM_012434.4):c.246G>A (p.A82=)
-
SLC17A5_000028
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/+, +/.
2
2
c.291G>A
r.95_291del, r.spl?
p.(Thr97=), p.Ala32Glyfs*2
-
pathogenic, pathogenic (recessive)
g.74354130C>T
g.73644407C>T
c291G>A
-
SLC17A5_000004
1 Caucasian SD patient (com-het)
PubMed: Kleta et al. 2001
,
PubMed: Lionel 2018
-
-
Germline, SUMMARY record
yes
-
-
-
-
Johan den Dunnen
,
Anne Polvi
-/.
1
-
c.292-22T>C
r.(=)
p.(=)
-
benign
g.74351669A>G
g.73641946A>G
SLC17A5(NM_012434.4):c.292-22T>C
-
SLC17A5_000038
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/+
1
2i_4i
c.293_613+1del
r.292_613del
p.(Gly98Glufs*7)
-
pathogenic
g.74348137_74351649del
g.73638414_73641926del
292–611del:deletion of exons 3-4
-
SLC17A5_000005
1 German SD patient (com-het)
PubMed: Aula et al. 2000
-
-
SUMMARY record
yes
-
-
-
-
Anne Polvi
+/+
1
3
c.309G>A
r.309g>a
p.Trp103*
-
pathogenic
g.74351630C>T
g.73641907C>T
309G>A, W103X
-
SLC17A5_000006
1 Swedish SD patient (com-het)
PubMed: Aula et al. 2000
-
-
SUMMARY record
yes
-
-
-
-
Anne Polvi
-?/.
1
-
c.360C>T
r.(?)
p.(Ile120=)
-
likely benign
g.74351579G>A
g.73641856G>A
SLC17A5(NM_012434.4):c.360C>T (p.I120=)
-
SLC17A5_000037
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/+
1
3
c.406A>G
r.406a>g
p.Lys136Glu
-
pathogenic
g.74351533T>C
g.73641810T>C
406A>G, K136E
-
SLC17A5_000007
1 Finnish SD patient (com-het), 1 Italian SD patient (hom)
PubMed: Aula et al. 2000
,
PubMed: Biancheri et al. 2005
-
rs80338795
SUMMARY record
yes
-
-
-
-
Anne Polvi
?/.
1
-
c.481G>A
r.(?)
p.(Val161Ile)
-
VUS
g.74351458C>T
g.73641735C>T
SLC17A5(NM_012434.4):c.481G>A (p.(Val161Ile))
-
SLC17A5_000027
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
+?/+?
1
3
c.500T>C
r.(?)
p.(Leu167Pro)
-
likely pathogenic
g.74351439A>G
g.73641716A>G
-
-
SLC17A5_000015
1 Spanish patient (com-het) with SD
PubMed: Couce et al. 2014
-
-
SUMMARY record
yes
-
-
-
-
Anne Polvi
+/+, +/.
2
3
c.507del
r.(?), r.507dela
p.(Leu170*), p.(Leu170Ter)
-
pathogenic
g.74351432del
g.73641709del
del 507A, SLC17A5(NM_012434.4):c.507delA (p.L170*)
-
SLC17A5_000008, SLC17A5_000026
1 Finnish SD patient (com-het), VKGL data sharing initiative Nederland
PubMed: Linnakivi et al. 2003
-
-
CLASSIFICATION record, SUMMARY record
yes
-
-
-
-
Anne Polvi
,
VKGL-NL_Rotterdam
+/+
1
3i_6i
c.526_819del
r.526_819del
p.Gly176_Gln273del
-
pathogenic
g.74345105_74348221del
-
526–819del: del exons 4–6; del (525-818): del exons 4-6
-
SLC17A5_000009
1 more item
PubMed: Varho et al. 2002
,
PubMed: Aula et al. 2000
-
-
SUMMARY record
yes
-
-
-
-
Anne Polvi
+/.
1
-
c.533del
r.(?)
p.(Thr178AsnfsTer34)
-
pathogenic
g.74348215del
g.73638492del
SLC17A5(NM_012434.4):c.533delC (p.T178Nfs*34)
-
SLC17A5_000025
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/.
1
-
c.606A>G
r.(?)
p.(Ser202=)
-
benign
g.74348142T>C
g.73638419T>C
SLC17A5(NM_012434.4):c.606A>G (p.S202=)
-
SLC17A5_000024
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
1
-
c.704C>T
r.(?)
p.(Thr235Ile)
-
likely benign
g.74345220G>A
-
SLC17A5(NM_012434.4):c.704C>T (p.T235I)
-
SLC17A5_000046
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/+, +/.
2
6
c.719G>A
r.(?), r.719g>a
p.(Trp240Ter), p.Trp240*
-
pathogenic
g.74345205C>T
g.73635482C>T
719G>A, W240X, SLC17A5(NM_012434.4):c.719G>A (p.W240*)
-
SLC17A5_000010
1 Finnish SD patient (com-het), VKGL data sharing initiative Nederland
PubMed: Aula et al. 2000
-
-
CLASSIFICATION record, SUMMARY record
yes
-
-
-
-
Anne Polvi
,
VKGL-NL_Rotterdam
+?/.
1
-
c.723del
r.(?)
p.(Leu242PhefsTer6)
-
likely pathogenic
g.74345203del
-
-
-
SLC17A5_000041
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/.
1
-
c.738_741del
r.(?)
p.(Ser249Thrfs*21)
-
likely pathogenic (recessive)
g.74345183_74345186del
g.73635460_73635463del
NM_012434.4:c.744_747del:p.(Ser249Thrfs*21)
-
SLC17A5_000044
-
PubMed: Maddirevula 2018
-
-
Germline
-
-
-
-
-
LOVD
+?/.
1
-
c.762dup
r.(?)
p.(His255ThrfsTer8)
-
likely pathogenic
g.74345166dup
g.73635443dup
SLC17A5(NM_012434.4):c.762dupA (p.H255Tfs*8)
-
SLC17A5_000036
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/+, +/.
2
6
c.802_816del
r.(?), r.802_816del
p.(Ser268_Asn272del), p.Ser268_Asn272del
-
pathogenic
g.74345109_74345123del
g.73635386_73635400del
15 base-pair deletion (802–816) in exon 6,
1 more item
-
SLC17A5_000011
1 Italian SD patient (het); (previously found only in ISSD patients),
1 more item
PubMed: Biancheri et al. 2002
-
-
CLASSIFICATION record, SUMMARY record
yes
-
-
-
-
Anne Polvi
,
VKGL-NL_Rotterdam
+/.
1
-
c.819+1G>A
r.spl
p.?
-
pathogenic (recessive)
g.74345104C>T
g.73635381C>T
-
-
SLC17A5_000029
-
PubMed: Lionel 2018
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
1
-
c.820-3C>T
r.spl?
p.?
-
likely benign
g.74331688G>A
g.73621965G>A
SLC17A5(NM_012434.4):c.820-3C>T
-
SLC17A5_000023
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
-
c.842C>T
r.(?)
p.(Pro281Leu)
-
VUS
g.74331663G>A
-
SLC17A5(NM_012434.4):c.842C>T (p.P281L)
-
SLC17A5_000045
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
3
-
c.886G>A
r.(?)
p.(Val296Ile)
-
likely benign
g.74331619C>T
g.73621896C>T
SLC17A5(NM_012434.4):c.886G>A (p.(Val296Ile))
-
SLC17A5_000035
109 heterozygous;
Clinindb (India)
, 5 homozygous;
Clinindb (India)
,
1 more item
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs16883930
CLASSIFICATION record, Germline
-
109/2795 individuals, 5/2795 individuals
-
-
-
VKGL-NL_Leiden
,
Mohammed Faruq
-?/., ?/.
3
-
c.899C>T
r.(?)
p.(Ser300Phe)
-
likely benign, VUS
g.74331606G>A
g.73621883G>A
SLC17A5(NM_012434.4):c.899C>T (p.S300F, p.(Ser300Phe))
-
SLC17A5_000034
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
+?/+?, +?/.
2
8
c.918T>G
r.(?)
p.(Tyr306*)
-
likely pathogenic, likely pathogenic (recessive)
g.74331587A>C
g.73621864A>C
-
-
SLC17A5_000016
1 Spanish patient (com-het) with SD, previously found in one French ISSD patient (com-het)
PubMed: Couce et al. 2014
,
PubMed: Aula et al. 2000
-
-
Germline, SUMMARY record
yes
-
-
-
-
Anne Polvi
,
Alejandro Brea-Fernández
-?/.
1
-
c.957C>A
r.(?)
p.(Ile319=)
-
likely benign
g.74331548G>T
g.73621825G>T
SLC17A5(NM_012434.4):c.957C>A (p.I319=)
-
SLC17A5_000033
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/+?
1
8
c.983G>A
r.983g>a
p.Gly328Glu
-
likely pathogenic
g.74325166C>T
g.73615443C>T
983G>A nucleotide change in exon 8
-
SLC17A5_000012
1 Bedouin SD family (hom)
PubMed: Landau et al. 2004
-
-
SUMMARY record
yes
0/50 BED CON
-
-
-
Anne Polvi
+/.
1
-
c.990dup
r.(?)
p.(Ser331IlefsTer20)
-
pathogenic
g.74325159dup
g.73615436dup
SLC17A5(NM_012434.4):c.990dupA (p.S331Ifs*20)
-
SLC17A5_000032
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/+
1
8
c.1007_1008del
r.1007_1008delta
p.Leu336Trpfs*14
-
pathogenic
g.74325141_74325142del
g.73615418_73615419del
2-base pair deletion (1007-1008)
-
SLC17A5_000013
5 Finnish SD patients (com-het) and 1 Swedish SD patient (com-het)
PubMed: Aula et al. 2000
,
PubMed: Varho et al. 2002
-
-
SUMMARY record
yes
-
-
-
-
Anne Polvi
+/.
1
-
c.1111+1G>A
r.spl?
p.?
-
pathogenic
g.74325037C>T
g.73615314C>T
SLC17A5(NM_012434.4):c.1111+1G>A
-
SLC17A5_000021
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/.
1
-
c.1111+7G>A
r.(=)
p.(=)
-
benign
g.74325031C>T
g.73615308C>T
SLC17A5(NM_012434.4):c.1111+7G>A
-
SLC17A5_000020
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/+, +/.
2
9
c.1138_1139del
r.(?), r.1138_1139delgt
p.(Val380SerfsTer8), p.Val380Serfs*8
-
pathogenic
g.74320243_74320244del
g.73610520_73610521del
1138–1139del: Frameshift, 7 novel amino acids, premature stop
-
SLC17A5_000014
1 British SD family (com-het), VKGL data sharing initiative Nederland
PubMed: Aula et al. 2000
-
-
CLASSIFICATION record, SUMMARY record
yes
-
-
-
-
Anne Polvi
,
VKGL-NL_Nijmegen
?/.
1
-
c.1177G>A
r.(?)
p.(Val393Ile)
-
VUS
g.74320205C>T
-
SLC17A5(NM_012434.4):c.1177G>A (p.V393I)
-
SLC17A5_000040
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
-
c.1192A>G
r.(?)
p.(Ile398Val)
-
VUS
g.74320190T>C
g.73610467T>C
-
-
SLC17A5_000031
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+?/+?
1
9
c.1226G>A
r.1226g>a
p.Gly409Glu
-
likely pathogenic
g.74320156C>T
g.73610433C>T
c1226G>A, G409E, alteration of a highly conserved amino acid within a transmembrane region
-
SLC17A5_000003
1 Caucasian SD patient (com-het)
PubMed: Kleta et al. 2001
-
-
SUMMARY record
yes
-
-
-
-
Anne Polvi
?/.
1
-
c.1250T>C
r.(?)
p.(Ile417Thr)
-
VUS
g.74320132A>G
-
SLC17A5(NM_012434.4):c.1250T>C (p.I417T)
-
SLC17A5_000043
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
-
c.1259C>T
r.(?)
p.(Ser420Leu)
-
VUS
g.74320123G>A
g.73610400G>A
SLC17A5(NM_012434.4):c.1259C>T (p.(Ser420Leu))
-
SLC17A5_000030
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
-?/.
1
-
c.1278G>T
r.(?)
p.(Leu426=)
-
likely benign
g.74310146C>A
-
SLC17A5(NM_012434.4):c.1278G>T (p.L426=)
-
SLC17A5_000047
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
2
-
c.1324G>A
r.(?)
p.(Val442Ile)
-
likely benign
g.74310100C>T
g.73600377C>T
SLC17A5(NM_012434.4):c.1324G>A (p.V442I), SLC17A5(NM_012434.5):c.1324G>A (p.V442I)
-
SLC17A5_000019
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
-/.
1
-
c.1351-23G>A
r.(=)
p.(=)
-
benign
g.74304960C>T
g.73595237C>T
SLC17A5(NM_012434.4):c.1351-23G>A
-
SLC17A5_000018
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
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