Annotation Detail

Information
Associated Genes
FOXL2
Associated Variants
FOXL2 p.Ile84Ser (p.I84S) ( ENST00000648323.1 )
FOXL2 p.Ile84Ser (p.I84S) ( ENST00000648323.1 )
Associated Disease
FOXL2-related disorder
Source Database
ClinVar
Description
NM_023067.4(FOXL2):c.251T>G (p.Ile84Ser) AND FOXL2-related disorder
ClinVar Allele ID
19902
ClinVar RefSeq Alternation Syntax
NM_023067.4:c.251T>G
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2023-11-15
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003894790
ClinVar Disease
FOXL2-related disorder
Observed Origin Sample
germline
Drugs