Annotation Detail

Information
Associated Genes
FANCG VCP
Associated Variants
FANCG p.Thr297Ile (p.T297I) ( ENST00000696710.1, ENST00000696715.1, ENST00000378643.8, ENST00000448890.2 )
FANCG p.Thr297Ile (p.T297I) ( ENST00000378643.8, ENST00000448890.2, ENST00000696710.1, ENST00000696715.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) AND not provided
ClinVar Allele ID
138106
ClinVar RefSeq Alternation Syntax
NM_004629.2:c.890C>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2019-04-24
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000514324
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs