NM_000074.2(CD40LG):c.464T>C (p.Leu155Pro)Rat Genome Database

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Variant : CV26199 (NM_000074.2(CD40LG):c.464T>C (p.Leu155Pro)) Homo sapiens

Symbol: CV26199
Name: NM_000074.2(CD40LG):c.464T>C (p.Leu155Pro)
RGD ID: 8598668
Condition: Hyper-IgM syndrome type 1 [RCV000011910]
Clinical Significance: pathogenic
Last Evaluated: 04/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CD40LG  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only
HGVS Name(s): P29965:p.Leu155Pro
LRG_141t1:c.464T>C
NM_000074.2:c.464T>C
LRG_141:g.15917T>C
NG_007280.1:g.15917T>C
NC_000023.11:g.136659093T>C
NC_000023.10:g.135741252T>C
LRG_141p1:p.Leu155Pro
NP_000065.1:p.Leu155Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,659,093 - 136,659,093CLINVAR
GRCh37X135,741,252 - 135,741,252CLINVAR
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:7679801  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011910 CLINVAR
dbSNP (RS) rs104894769 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR
OMIM Allele 300386.0004 CLINVAR