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 computer assertion could be determined for this classification!
Variant: NM_004004.6(GJB2):c.584T>C (p.Met195Thr)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA387460849
438620 (ClinVar)
Gene: GJB2
Condition: nonsyndromic genetic deafness
Inheritance Mode: Autosomal recessive inheritance
UUID: 288595d2-108b-486b-affa-9200bf31dcc8
Approved on: 2024-05-15
Published on: 2024-07-02
HGVS expressions
NM_004004.6:c.584T>C
NM_004004.6(GJB2):c.584T>C (p.Met195Thr)
NC_000013.11:g.20188998A>G
CM000675.2:g.20188998A>G
NC_000013.10:g.20763137A>G
CM000675.1:g.20763137A>G
NC_000013.9:g.19661137A>G
NG_008358.1:g.8978T>C
ENST00000382844.2:c.584T>C
ENST00000382848.5:c.584T>C
ENST00000382844.1:c.584T>C
ENST00000382848.4:c.584T>C
NM_004004.5:c.584T>C
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Evidence submitted by expert panel
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