Annotation Detail
Information
- Associated Genes
- SMAD4
- Associated Variants
-
SMAD4 p.Ile500Val (p.I500V)
(
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.Ile500Val (p.I500V) ( 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
- Myhre syndrome
- Source Database
- ClinVar
- Description
- NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) AND Myhre syndrome
- ClinVar Allele ID
- 39106
- ClinVar RefSeq Alternation Syntax
- NM_005359.6:c.1498A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-04-20
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000023061
- ClinVar Disease
- Myhre syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Observed Origin Sample
- inherited
- Observed Origin Sample
- unknown
- Pubmed
- 22158539
- Pubmed
- 22243968
- Pubmed
- 22585601
- Pubmed
- 11977156
Drugs