Annotation Detail

Information
Associated Genes
FLG CCDST
Associated Variants
FLG p.Arg1052Gly (p.R1052G) ( ENST00000368799.2 )
FLG p.Arg1052Gly (p.R1052G) ( ENST00000368799.2 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_002016.2(FLG):c.3154A>G (p.Arg1052Gly) AND not provided
ClinVar Allele ID
655034
ClinVar RefSeq Alternation Syntax
NM_002016.2:c.3154A>G
Clinical Significance Description
Likely benign
Clinical Significance Last Update
2018-06-15
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000838143
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs