Annotation Detail

Information
Associated Genes
TNFAIP3
Associated Variants
TNFAIP3 p.Ala125Val (p.A125V) ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 )
TNFAIP3 p.Ala125Val (p.A125V) ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_001270508.2(TNFAIP3):c.374C>T (p.Ala125Val) AND not specified
ClinVar Allele ID
139071
ClinVar RefSeq Alternation Syntax
NM_001270507.2:c.374C>T
ClinVar RefSeq Alternation Syntax
NM_001270508.2:c.374C>T
ClinVar RefSeq Alternation Syntax
NM_006290.4:c.374C>T
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2015-10-13
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000122147
ClinVar Disease
not specified
Observed Origin Sample
germline
Observed Origin Sample
unknown
Drugs