Annotation Detail
Information
- Associated Genes
- BPI
- Associated Variants
-
BPI p.Ala12Val (p.A12V)
(
ENST00000262865.9,
ENST00000642449.2 )
BPI p.Ala12Val (p.A12V) ( ENST00000262865.9, ENST00000642449.2 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001725.3(BPI):c.35C>T (p.Ala12Val) AND not specified
- ClinVar Allele ID
- 390390
- ClinVar RefSeq Alternation Syntax
- NM_001725.3:c.35C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2016-03-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000455313
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs