NM_000074.2(CD40LG):c.418T>G (p.Trp140Gly)Rat Genome Database

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Variant : CV26203 (NM_000074.2(CD40LG):c.418T>G (p.Trp140Gly)) Homo sapiens

Symbol: CV26203
Name: NM_000074.2(CD40LG):c.418T>G (p.Trp140Gly)
RGD ID: 8598671
Condition: Hyper-IgM syndrome type 1 [RCV000011914]|not provided [RCV000256172]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 06/08/2016
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CD40LG  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing|literature only
HGVS Name(s): P29965:p.Trp140Gly
NM_000074.2:c.418T>G
LRG_141t1:c.418T>G
LRG_141:g.15871T>G
NG_007280.1:g.15871T>G
NC_000023.11:g.136659047T>G
NC_000023.10:g.135741206T>G
LRG_141p1:p.Trp140Gly
NP_000065.1:p.Trp140Gly
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,659,047 - 136,659,047CLINVAR
GRCh37X135,741,206 - 135,741,206CLINVAR
Cytogenetic MapXXq26.3CLINVAR
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:7679206  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011914 CLINVAR
  RCV000256172 CLINVAR
dbSNP (RS) rs104894777 CLINVAR
MedGen C0398689 CLINVAR
  CN517202 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR
OMIM Allele 300386.0008 CLINVAR