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_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe)
CA254013
6950 (ClinVar)
Gene: MYO15A
Condition: nonsyndromic genetic deafness
Inheritance Mode: Autosomal recessive inheritance
UUID: 32a40ffc-032f-4193-8775-6ab7c16565fe
HGVS expressions
NM_016239.4:c.6337A>T
NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe)
NC_000017.11:g.18145935A>T
CM000679.2:g.18145935A>T
NC_000017.10:g.18049249A>T
CM000679.1:g.18049249A>T
NC_000017.9:g.17989974A>T
NG_011634.1:g.42230A>T
NG_011634.2:g.42230A>T
ENST00000647165.2:c.6337A>T
ENST00000205890.9:c.6337A>T
ENST00000615845.4:c.6337A>T
NM_016239.3:c.6337A>T
Evidence submitted by expert panel
Approved on: 2021-09-28
Published on: 2022-05-13
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