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SLC26A4, 1-BP DEL, 1565G

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Dec 1, 1997
Accession:
VCV000004813.1
Variation ID:
4813
Description:
deletion
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SLC26A4, 1-BP DEL, 1565G

Allele ID
19852
Variant type
Deletion
Variant length
-
Cytogenetic location
7q31
Genomic location
-
HGVS
-
Protein change
-
Other names
1-BP DEL, 1565G
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 605646.0002
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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 RCV000005082.4
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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

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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: SCV000025258.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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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

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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

Record last updated Oct 08, 2021