Annotation Detail

Information
Associated Genes
FOXL2
Associated Variants
FOXL2 p.Gln219Ter (p.Q219*) ( ENST00000648323.1 )
FOXL2 p.Gln219Ter (p.Q219*) ( ENST00000648323.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_023067.4(FOXL2):c.655C>T (p.Gln219Ter) AND not provided
ClinVar Allele ID
19892
ClinVar RefSeq Alternation Syntax
NM_023067.4:c.655C>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2023-03-24
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003555920
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs