Annotation Detail
Information
- Associated Genes
- SMAD4
- Associated Variants
-
SMAD4 p.Arg496Cys (p.R496C)
(
ENST00000593223.2,
ENST00000714266.1,
ENST00000590061.2,
ENST00000714261.1,
ENST00000714264.1,
ENST00000398417.6,
ENST00000714268.1,
ENST00000589941.2,
ENST00000589076.6,
ENST00000714272.1,
ENST00000714269.1,
ENST00000342988.8,
ENST00000588860.6,
ENST00000588745.5,
ENST00000714270.1 )
SMAD4 p.Arg496Cys (p.R496C) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 ) - Associated Disease
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome juvenile polyposis syndrome Carcinoma of pancreas Myhre syndrome
- Source Database
- ClinVar
- Description
- NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) AND multiple conditions
- ClinVar Allele ID
- 94253
- ClinVar RefSeq Alternation Syntax
- NM_005359.6:c.1486C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-08-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002483120
- ClinVar Disease
- Myhre syndrome
- ClinVar Disease
- Carcinoma of pancreas
- ClinVar Disease
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
- ClinVar Disease
- Juvenile polyposis syndrome
- Observed Origin Sample
- unknown
Drugs