Annotation Detail

Information
Associated Genes
FCGR3A
Associated Variants
FCGR3A p.Phe176Val (p.F176V) ( ENST00000367967.8, ENST00000436743.7, ENST00000699395.1, ENST00000699397.1, ENST00000699399.1, ENST00000699401.1, ENST00000699396.1, ENST00000426740.8, ENST00000699400.1, ENST00000443193.6, ENST00000699398.1 )
FCGR3A p.Phe176Val (p.F176V) ( ENST00000367967.8, ENST00000426740.8, ENST00000436743.7, ENST00000443193.6, ENST00000699395.1, ENST00000699396.1, ENST00000699397.1, ENST00000699398.1, ENST00000699399.1, ENST00000699400.1, ENST00000699401.1 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000569.8(FCGR3A):c.526T>G (p.Phe176Val) AND not specified
ClinVar Allele ID
227742
ClinVar RefSeq Alternation Syntax
NM_001127592.2:c.838T>G
ClinVar RefSeq Alternation Syntax
NM_001386450.1:c.523T>G
ClinVar RefSeq Alternation Syntax
NM_001329120.2:c.526T>G
ClinVar RefSeq Alternation Syntax
NM_001329122.1:c.635-1553T>G
ClinVar RefSeq Alternation Syntax
NM_001127593.1:c.526T>G
ClinVar RefSeq Alternation Syntax
NM_001127596.2:c.523T>G
ClinVar RefSeq Alternation Syntax
NM_000569.8:c.526T>G
ClinVar RefSeq Alternation Syntax
NM_001127595.2:c.526T>G
Clinical Significance Description
Benign/Likely benign
Clinical Significance Last Update
2024-01-24
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000455498
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs