Annotation Detail

Information
Associated Genes
CFB NELFE
Associated Variants
NELFE c.*122A>G ( ENST00000375429.8 )
NELFE c.*122A>G ( ENST00000375429.8 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_002904.6(NELFE):c.*122A>G AND not provided
ClinVar Allele ID
1250230
ClinVar RefSeq Alternation Syntax
NM_002904.6:c.*122A>G
Clinical Significance Description
Benign
Clinical Significance Last Update
2018-11-10
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001673843
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs