Annotation Detail

Information
Associated Genes
VWF
Associated Variants
VWF p.Met740Ile (p.M740I) ( ENST00000261405.10 )
VWF p.Met740Ile (p.M740I) ( ENST00000261405.10 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000552.5(VWF):c.2220G>A (p.Met740Ile) AND not provided
ClinVar Allele ID
106083
ClinVar RefSeq Alternation Syntax
NM_000552.5:c.2220G>A
Clinical Significance Description
Benign
Clinical Significance Last Update
2022-05-09
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000086592
ClinVar Disease
not provided
Observed Origin Sample
germline
Observed Origin Sample
not provided
Observed Origin Sample
unknown
Drugs