Annotation Detail

Information
Associated Genes
TGFB1
Associated Variants
TGFB1 p.Thr263Ile (p.T263I) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 )
TGFB1 p.Thr263Ile (p.T263I) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000660.7(TGFB1):c.788C>T (p.Thr263Ile) AND not specified
ClinVar Allele ID
47506
ClinVar RefSeq Alternation Syntax
NM_000660.7:c.788C>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2015-07-24
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000203155
ClinVar Disease
not specified
Observed Origin Sample
germline
Observed Origin Sample
unknown
Drugs