Annotation Detail

Information
Associated Genes
ANKRD1
Associated Variants
ANKRD1 p.Ala276Val (p.A276V) ( ENST00000371697.4 )
ANKRD1 p.Ala276Val (p.A276V) ( ENST00000371697.4 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) AND not provided
ClinVar Allele ID
54804
ClinVar RefSeq Alternation Syntax
NM_014391.3:c.827C>T
Clinical Significance Description
Benign/Likely benign
Clinical Significance Last Update
2023-11-07
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000590657
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs