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_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)
CA6197628
438172 (ClinVar)
Gene: MYO7A
Condition: nonsyndromic genetic deafness
Inheritance Mode: Autosomal recessive inheritance
UUID: 91d8a5fd-ca4f-426d-9b06-68e7858e7d7e
HGVS expressions
NM_000260.4:c.1849T>C
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)
NC_000011.10:g.77172799T>C
CM000673.2:g.77172799T>C
NC_000011.9:g.76883845T>C
CM000673.1:g.76883845T>C
NC_000011.8:g.76561493T>C
NG_009086.1:g.49536T>C
NG_009086.2:g.49554T>C
ENST00000409709.9:c.1849T>C
ENST00000669443.1:c.213T>C
ENST00000409619.6:c.1816T>C
ENST00000409709.7:c.1849T>C
ENST00000409893.5:c.1849T>C
ENST00000458637.6:c.1849T>C
ENST00000620575.4:c.1849T>C
NM_000260.3:c.1849T>C
NM_001127179.2:c.1849T>C
NM_001127180.1:c.1849T>C
NM_001127180.2:c.1849T>C
NM_001369365.1:c.1816T>C
Evidence submitted by expert panel
Approved on: 2024-06-28
Published on: 2024-06-28
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