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 specified
- Source Database
- ClinVar
- Description
- NM_000552.5(VWF):c.2220G>A (p.Met740Ile) AND not specified
- ClinVar Allele ID
- 106083
- ClinVar RefSeq Alternation Syntax
- NM_000552.5:c.2220G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2014-12-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000175146
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs