Annotation Detail

Information
Associated Genes
MYH7
Associated Variants
MYH7 p.Gly1101Ser (p.G1101S) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Gly1101Ser (p.G1101S) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000257.4(MYH7):c.3301G>A (p.Gly1101Ser) AND not provided
ClinVar Allele ID
171162
ClinVar RefSeq Alternation Syntax
NM_000257.4:c.3301G>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2021-12-27
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000766444
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs