Annotation Detail
Information
- Associated Genes
- TGFB1 B9D2
- Associated Variants
-
TGFB1 c.-1347T>C
(
ENST00000539627.5,
ENST00000604123.5 )
TGFB1 c.-1347T>C ( ENST00000539627.5, ENST00000604123.5 ) - Associated Disease
- Familial aplasia of the vermis Meckel-Gruber syndrome
- Source Database
- ClinVar
- Description
- NM_000660.6(TGFB1):c.-1347T>C AND multiple conditions
- ClinVar Allele ID
- 47908
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001516679
- ClinVar Disease
- Familial aplasia of the vermis
- ClinVar Disease
- Meckel-Gruber syndrome
- Observed Origin Sample
- germline
Drugs