Annotation Detail
Information
- Associated Genes
- FLCN
- Associated Variants
-
ENSG00000264187 p.Leu25= (p.L25=), FLCN p.Leu25= (p.L25=)
(
ENST00000389169.9,
ENST00000285071.9 )
ENSG00000264187 p.Leu25= (p.L25=), FLCN p.Leu25= (p.L25=) ( ENST00000285071.9, ENST00000389169.9 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_144997.7(FLCN):c.75G>A (p.Leu25=) AND not specified
- ClinVar Allele ID
- 402305
- ClinVar RefSeq Alternation Syntax
- NM_001353231.2:c.75G>A
- ClinVar RefSeq Alternation Syntax
- NM_001353229.2:c.75G>A
- ClinVar RefSeq Alternation Syntax
- NM_001353230.2:c.75G>A
- ClinVar RefSeq Alternation Syntax
- NM_144606.7:c.75G>A
- ClinVar RefSeq Alternation Syntax
- NM_144997.7:c.75G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2024-02-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003493589
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs