Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000441.2(SLC26A4):c.2000T>G (p.Phe667Cys)

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Dec 1, 1997
Accession:
VCV000004812.1
Variation ID:
4812
Description:
single nucleotide variant
Help

NM_000441.2(SLC26A4):c.2000T>G (p.Phe667Cys)

Allele ID
19851
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107702023 (GRCh38) GRCh38 UCSC
7: 107342468 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107342468T>G
NC_000007.14:g.107702023T>G
NG_008489.1:g.46389T>G
... more HGVS
Protein change
F667C
Other names
-
Canonical SPDI
NC_000007.14:107702022:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA253303
UniProtKB: O43511#VAR_007447
OMIM: 605646.0001
dbSNP: rs121908360
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Dec 1, 1997 RCV000005081.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC26A4 - - GRCh38
GRCh37
749 825

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 01, 1997)
no assertion criteria provided
Method: literature only
PENDRED SYNDROME
Allele origin: germline
OMIM
Accession: SCV000025257.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Everett LA Nature genetics 1997 PMID: 9398842

Text-mined citations for rs121908360...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021