Annotation Detail

Information
Associated Genes
TGFB1
Associated Variants
TGFB1 p.Pro10Leu (p.P10L) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 )
TGFB1 p.Pro10Leu (p.P10L) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1, ENST00000539627.5 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu) AND not specified
ClinVar Allele ID
27573
ClinVar RefSeq Alternation Syntax
NM_000660.7:c.29C>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2024-01-24
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000242872
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs