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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Variant: NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
CA252231
2355 (ClinVar)
Gene: USH2A
Condition: Usher syndrome
Inheritance Mode: Autosomal recessive inheritance
UUID: de5c11cc-0c72-45e3-a3d9-8708277e343d
Approved on: 2022-08-03
Published on: 2022-08-03
HGVS expressions
NM_206933.4:c.956G>A
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
NC_000001.11:g.216325492C>T
CM000663.2:g.216325492C>T
NC_000001.10:g.216498834C>T
CM000663.1:g.216498834C>T
NC_000001.9:g.214565457C>T
NG_009497.1:g.102905G>A
NG_009497.2:g.102957G>A
ENST00000307340.8:c.956G>A
ENST00000674083.1:c.956G>A
ENST00000307340.7:c.956G>A
ENST00000366942.3:c.956G>A
NM_007123.5:c.956G>A
NM_206933.2:c.956G>A
NM_206933.3:c.956G>A
NM_007123.6:c.956G>A
Evidence submitted by expert panel
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