Annotation Detail
Information
- Associated Genes
- SMAD4
- Associated Variants
-
SMAD4 p.Leu533SerfsTer4 (p.L533Sfs*4)
(
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 )
SMAD4 p.Leu533SerfsTer4 (p.L533Sfs*4) ( 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
- Source Database
- ClinVar
- Description
- NM_005359.6(SMAD4):c.1596_1597delinsT (p.Leu533fs) AND Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
- ClinVar Allele ID
- 36212
- ClinVar RefSeq Alternation Syntax
- NM_005359.6:c.1596_1597delinsT
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2006-10-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000021752
- ClinVar Disease
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
- Observed Origin Sample
- germline
- Pubmed
- 16613914
Drugs