Annotation Detail
Information
- Associated Genes
- SMO
- Associated Variants
-
SMO p.Leu412Phe (p.L412F)
(
ENST00000249373.8 )
SMO p.Leu412Phe (p.L412F) ( ENST00000249373.8 ) - Associated Disease
- Curry-Jones syndrome
- Source Database
- ClinVar
- Description
- NM_005631.5(SMO):c.1234C>T (p.Leu412Phe) AND Curry-Jones syndrome
- ClinVar Allele ID
- 245206
- ClinVar RefSeq Alternation Syntax
- NM_005631.5:c.1234C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-03-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000236033
- ClinVar Disease
- Curry-Jones syndrome
- Observed Origin Sample
- somatic
- Pubmed
- 3144990
- Pubmed
- 16531740
- Pubmed
- 18798318
- Pubmed
- 27236920
- Pubmed
- 7606318
Drugs