Annotation Detail
Information
- Associated Genes
- MYO7A
- Associated Variants
-
MYO7A p.Gly2187Asp (p.G2187D)
(
ENST00000409709.9,
ENST00000409619.6,
ENST00000458637.6 )
MYO7A p.Gly2187Asp (p.G2187D) ( ENST00000409619.6, ENST00000409709.9, ENST00000458637.6 ) - Associated Disease
- Usher syndrome
- Source Database
- ClinVar
- Description
- NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) AND Usher syndrome
- ClinVar Allele ID
- 52505
- ClinVar RefSeq Alternation Syntax
- NM_001127180.2:c.6440G>A
- ClinVar RefSeq Alternation Syntax
- NM_000260.4:c.6560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369365.1:c.6413G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-08-03
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000036241
- ClinVar Disease
- Usher syndrome
- Observed Origin Sample
- germline
Drugs