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
- Meckel syndrome, type 10
- Source Database
- ClinVar
- Description
- NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu) AND Meckel syndrome, type 10
- ClinVar Allele ID
- 27573
- ClinVar RefSeq Alternation Syntax
- NM_000660.7:c.29C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-08-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002496341
- ClinVar Disease
- Meckel syndrome, type 10
- Observed Origin Sample
- unknown
Drugs