CD40LG, ALU INS, EX1Rat Genome Database

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Variant : CV26209 (CD40LG, ALU INS, EX1) Homo sapiens

Symbol: CV26209
Name: CD40LG, ALU INS, EX1
RGD ID: 8562222
Condition: Hyper-IgM syndrome type 1 [RCV000011920]
Clinical Significance: pathogenic
Last Evaluated: 12/11/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CD40LG  
Variant Type: insertion (SO:0000667)
Source: CLINVAR
Nucleotide Change: alu ins, ex1
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:17146684  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011920 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR
OMIM Allele 300386.0014 CLINVAR