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_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile)
CA278724
164724 (ClinVar)
Gene: MYO7A
Condition: Usher syndrome
Inheritance Mode: Autosomal recessive inheritance
UUID: a0970228-dea0-44d1-aa6d-d35746a8cff7
Approved on: 2023-01-18
Published on: 2023-02-06
HGVS expressions
NM_000260.4:c.6326C>T
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile)
NC_000011.10:g.77211909C>T
CM000673.2:g.77211909C>T
NC_000011.9:g.76922954C>T
CM000673.1:g.76922954C>T
NC_000011.8:g.76600602C>T
NG_009086.1:g.88645C>T
NG_009086.2:g.88664C>T
ENST00000409709.9:c.6326C>T
ENST00000670577.1:n.4127C>T
ENST00000409619.6:c.6179C>T
ENST00000409709.7:c.6326C>T
ENST00000458169.2:n.3752C>T
ENST00000458637.6:c.6212C>T
ENST00000481328.7:n.3862C>T
ENST00000526863.2:n.26-636C>T
ENST00000605744.1:n.1793C>T
NM_000260.3:c.6326C>T
NM_001127180.1:c.6212C>T
NM_001127180.2:c.6212C>T
NM_001369365.1:c.6179C>T
Evidence submitted by expert panel
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