Annotation Detail
Information
- Associated Genes
- FANCD2 LOC107303338
- Associated Variants
-
FANCD2 p.Thr193Ala (p.T193A)
(
ENST00000431693.1,
ENST00000419585.5,
ENST00000287647.7,
ENST00000675286.1 )
FANCD2 p.Thr193Ala (p.T193A) ( ENST00000287647.7, ENST00000419585.5, ENST00000431693.1, ENST00000675286.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala) AND not provided
- ClinVar Allele ID
- 138067
- ClinVar RefSeq Alternation Syntax
- NM_001374255.1:c.577A>G
- ClinVar RefSeq Alternation Syntax
- NM_001018115.3:c.577A>G
- ClinVar RefSeq Alternation Syntax
- NM_001374254.1:c.577A>G
- ClinVar RefSeq Alternation Syntax
- NM_001374253.1:c.577A>G
- ClinVar RefSeq Alternation Syntax
- NM_033084.6:c.577A>G
- ClinVar RefSeq Alternation Syntax
- NM_001319984.2:c.577A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2015-12-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000224959
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs