Annotation Detail
Information
- Associated Genes
- FLCN
- Associated Variants
-
ENSG00000264187 c.149-3471C>T, FLCN p.Ala252Val (p.A252V)
(
ENST00000389169.9,
ENST00000285071.9 )
ENSG00000264187 c.149-3471C>T, FLCN p.Ala252Val (p.A252V) ( ENST00000285071.9, ENST00000389169.9 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_144997.7(FLCN):c.755C>T (p.Ala252Val) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 949727
- ClinVar RefSeq Alternation Syntax
- NM_001353229.2:c.809C>T
- ClinVar RefSeq Alternation Syntax
- NM_001353230.2:c.755C>T
- ClinVar RefSeq Alternation Syntax
- NM_144997.7:c.755C>T
- ClinVar RefSeq Alternation Syntax
- NM_001353231.2:c.755C>T
- ClinVar RefSeq Alternation Syntax
- NM_144606.7:c.755C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2016-10-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002393605
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs