The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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- See Evidence submitted by expert panel for details.
Variant: NM_005422.2(TECTA):c.5836T>C (p.Tyr1946His)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA178113
165370 (ClinVar)
Gene: TECTA
Condition: nonsyndromic genetic deafness
UUID: 4b0e8b50-666a-4b08-ba95-8bb5daecfb6d
Approved on: 2019-01-28
Published on: 2019-07-17
HGVS expressions
NM_005422.2:c.5836T>C
NM_005422.2(TECTA):c.5836T>C (p.Tyr1946His)
NM_005422.2:n.5836T>C
ENST00000264037.2:n.5836T>C
ENST00000392793.5:c.5836T>C
NC_000011.10:g.121168762T>C
CM000673.2:g.121168762T>C
NC_000011.9:g.121039471T>C
CM000673.1:g.121039471T>C
NC_000011.8:g.120544681T>C
NG_011633.1:g.71097T>C
More
Evidence submitted by expert panel
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