The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computed assertion could be determined for this classification!
Variant: NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)
- Curation Version - 1.1
- Curation History
- JSON LD for Version 1.1
CA274070
188878 (ClinVar)
Gene: SLC26A4
Condition: Pendred syndrome
Inheritance Mode: Autosomal recessive inheritance
UUID: cfc9189b-83ef-4fee-9391-68daefe50667
Approved on: 2024-10-16
Published on: 2025-01-06
HGVS expressions
NM_000441.2(SLC26A4):c.554G>C
NM_000441.2:c.554G>C
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)
NC_000007.14:g.107674302G>C
CM000669.2:g.107674302G>C
NC_000007.13:g.107314747G>C
CM000669.1:g.107314747G>C
NC_000007.12:g.107101983G>C
NG_008489.1:g.18668G>C
ENST00000644269.2:c.554G>C
ENST00000265715.7:c.554G>C
NM_000441.1:c.554G>C
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Evidence submitted by expert panel
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