NM_000074.2(CD40LG):c.655G>A (p.Gly219Arg)Rat Genome Database

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Variant : CV44477 (NM_000074.2(CD40LG):c.655G>A (p.Gly219Arg)) Homo sapiens

Symbol: CV44477
Name: NM_000074.2(CD40LG):c.655G>A (p.Gly219Arg)
RGD ID: 8602715
Condition: Hyper-IgM syndrome type 1 [RCV000029465]|not specified [RCV000358482]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 08/17/2017
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
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.Gly219Arg
LRG_141t1:c.655G>A
LRG_141:g.16108G>A
NG_007280.1:g.16108G>A
NC_000023.11:g.136659284G>A
NC_000023.10:g.135741443G>A
LRG_141p1:p.Gly219Arg
NP_000065.1:p.Gly219Arg
NM_000074.2:c.655G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,659,284 - 136,659,284CLINVAR
GRCh37X135,741,443 - 135,741,443CLINVAR
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:10651941   PMID:19575287   PMID:20652909   PMID:21543760   PMID:22750225   PMID:23622016   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000029465 CLINVAR
  RCV000358482 CLINVAR
dbSNP (RS) rs148594123 CLINVAR
MedGen C0398689 CLINVAR
  CN169374 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR