Annotation Detail
Information
- Associated Genes
- SMAD4
- Associated Variants
-
SMAD4 p.Gln388Ter (p.Q388*)
(
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.Gln388Ter (p.Q388*) ( 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
- Generalized juvenile polyposis/juvenile polyposis coli
- Source Database
- ClinVar
- Description
- NM_005359.6(SMAD4):c.1162C>T (p.Gln388Ter) AND Generalized juvenile polyposis/juvenile polyposis coli
- ClinVar Allele ID
- 34298
- ClinVar RefSeq Alternation Syntax
- NM_005359.6:c.1162C>T
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000021723
- ClinVar Disease
- Generalized juvenile polyposis/juvenile polyposis coli
- Observed Origin Sample
- unknown
Drugs