ClinVar Genomic variation as it relates to human health
NM_000441.2(SLC26A4):c.107A>C (p.His36Pro)
Germline
Classification
(1)
Likely pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
SLC26A4 | - | - |
GRCh38 GRCh37 |
1332 | 1527 | |
SLC26A4-AS1 | - | - | - | GRCh38 | - | 104 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 10, 2022 | RCV002444379.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 06, 2024