Annotation Detail

Information
Associated Genes
TGFB1
Associated Variants
TGFB1 p.Pro10Arg (p.P10R) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 )
TGFB1 p.Pro10Arg (p.P10R) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000660.7(TGFB1):c.29C>G (p.Pro10Arg) AND not provided
ClinVar Allele ID
1391340
ClinVar RefSeq Alternation Syntax
NM_000660.7:c.29C>G
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2023-06-17
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001977572
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs