Annotation Detail
Information
- Associated Genes
- F13A1
- Associated Variants
-
F13A1 p.Pro565Leu (p.P565L)
(
ENST00000264870.8 )
F13A1 p.Pro565Leu (p.P565L) ( ENST00000264870.8 ) - Associated Disease
- Factor XIII, A subunit, deficiency of
- Source Database
- ClinVar
- Description
- NM_000129.4(F13A1):c.1694C>T (p.Pro565Leu) AND Factor XIII, A subunit, deficiency of
- ClinVar Allele ID
- 252448
- ClinVar RefSeq Alternation Syntax
- NM_000129.4:c.1694C>T
- 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/RCV000366204
- ClinVar Disease
- Factor XIII, A subunit, deficiency of
- Observed Origin Sample
- germline
Drugs