CD40LG, 1-BP INS, TTT-TTTT, FS84TERRat Genome Database

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Variant : CV26208 (CD40LG, 1-BP INS, TTT-TTTT, FS84TER) Homo sapiens

Symbol: CV26208
Name: CD40LG, 1-BP INS, TTT-TTTT, FS84TER
RGD ID: 8562221
Condition: Hyper-IgM syndrome type 1 [RCV000011919]
Clinical Significance: pathogenic
Last Evaluated: 04/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CD40LG  
Variant Type: insertion (SO:0000667)
Source: CLINVAR
Nucleotide Change: 1-bp ins, ttt-tttt, fs84ter
Evidence: literature only
Position
Human AssemblyChrPosition (strand)Source
Cytogenetic MapXXq26CLINVAR
Trait Synonyms: Hyper IgM immunodeficiency, X-linked; Hyper-IgM Immunodeficiency Syndrome, Type 1; IMMUNODEFICIENCY 3; Immunodeficiency with hyper IgM type 1; X-linked hyper-IgM syndrome



Disease Annotations     Click to see Annotation Detail View


References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:7586644  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011919 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR
OMIM Allele 300386.0013 CLINVAR