Annotation Detail

Information
Associated Genes
TNFAIP3
Associated Variants
TNFAIP3 p.Phe127Cys (p.F127C) ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 )
TNFAIP3 p.Phe127Cys (p.F127C) ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_001270508.2(TNFAIP3):c.380T>G (p.Phe127Cys) AND not specified
ClinVar Allele ID
139073
ClinVar RefSeq Alternation Syntax
NM_001270507.2:c.380T>G
ClinVar RefSeq Alternation Syntax
NM_001270508.2:c.380T>G
ClinVar RefSeq Alternation Syntax
NM_006290.4:c.380T>G
Clinical Significance Description
not provided
Clinical Significance Last Update
2013-09-19
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000122149
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs