NM_000074.2(CD40LG):c.31C>T (p.Arg11Ter)Rat Genome Database

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Variant : CV44476 (NM_000074.2(CD40LG):c.31C>T (p.Arg11Ter)) Homo sapiens

Symbol: CV44476
Name: NM_000074.2(CD40LG):c.31C>T (p.Arg11Ter)
RGD ID: 8602714
Condition: Hyper-IgM syndrome type 1 [RCV000029464]|not provided [RCV001092164]|not specified [RCV000507366]
Clinical Significance: pathogenic
Last Evaluated: 10/31/2018
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: CD40LG  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense|stop-gain
Evidence: clinical testing|curation|literature only
HGVS Name(s): LRG_141t1:c.31C>T
LRG_141:g.5103C>T
NG_007280.1:g.5103C>T
NC_000023.11:g.136648279C>T
NC_000023.10:g.135730438C>T
p.Arg11X
LRG_141p1:p.Arg11Ter
NP_000065.1:p.Arg11Ter
NM_000074.2:c.31C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,648,279 - 136,648,279CLINVAR
GRCh37X135,730,438 - 135,730,438CLINVAR
Cytogenetic MapXXq26.3CLINVAR
Trait Synonyms: AllHighlyPenetrant; 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:9746782   PMID:15358621   PMID:16169277   PMID:17351759   PMID:18955577   PMID:20301576   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000029464 CLINVAR
  RCV000507366 CLINVAR
  RCV001092164 CLINVAR
dbSNP (RS) rs193922135 CLINVAR
MedGen C0398689 CLINVAR
  CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR