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
- Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax colorectal cancer nonpapillary renal cell carcinoma Potocki-Lupski syndrome
- Source Database
- ClinVar
- Description
- NM_144997.7(FLCN):c.75G>A (p.Leu25=) AND multiple conditions
- 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
- Benign
- Clinical Significance Last Update
- 2022-02-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002475917
- ClinVar Disease
- Familial spontaneous pneumothorax
- ClinVar Disease
- Nonpapillary renal cell carcinoma
- ClinVar Disease
- Colorectal cancer
- ClinVar Disease
- Birt-Hogg-Dube syndrome
- ClinVar Disease
- Potocki-Lupski syndrome
- Observed Origin Sample
- unknown
Drugs