Annotation Detail
Information
- Associated Genes
- F13B
- Associated Variants
-
F13B p.Arg115His (p.R115H)
(
ENST00000367412.2 )
F13B p.Arg115His (p.R115H) ( ENST00000367412.2 ) - Associated Disease
- Factor XIII, b subunit, deficiency of
- Source Database
- ClinVar
- Description
- NM_001994.3(F13B):c.344G>A (p.Arg115His) AND Factor XIII, b subunit, deficiency of
- ClinVar Allele ID
- 31559
- ClinVar RefSeq Alternation Syntax
- NM_001994.3:c.344G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-08-10
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000301691
- ClinVar Disease
- Factor XIII, b subunit, deficiency of
- Observed Origin Sample
- germline
Drugs