Annotation Detail

Information
Associated Genes
MYH7
Associated Variants
MYH7 p.Ala26Val (p.A26V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ala26Val (p.A26V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) AND not provided
ClinVar Allele ID
45929
ClinVar RefSeq Alternation Syntax
NM_000257.4:c.77C>T
Clinical Significance Description
Conflicting interpretations of pathogenicity
Clinical Significance Last Update
2024-04-01
Clinical Significance Review Status
criteria provided, conflicting interpretations
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000721101
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs