NM_000074.2(CD40LG):c.189del (p.Phe63fs)Rat Genome Database

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Variant : CV44475 (NM_000074.2(CD40LG):c.189del (p.Phe63fs)) Homo sapiens

Symbol: CV44475
Name: NM_000074.2(CD40LG):c.189del (p.Phe63fs)
RGD ID: 8602713
Condition: Hyper-IgM syndrome type 1 [RCV000029463]
Clinical Significance: likely pathogenic
Last Evaluated: 08/18/2011
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: CD40LG  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift|frameshift variant
Evidence: curation|literature only
HGVS Name(s): LRG_141:g.7122del
LRG_141t1:c.189del
NM_000074.2:c.189del
NG_007280.1:g.7122del
NC_000023.11:g.136650298del
NC_000023.10:g.135732457del
LRG_141p1:p.Phe63fs
NP_000065.1:p.Phe63fs
NM_000074.2:c.189delT
p.Phe63LeufsX4
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,650,295 - 136,650,295CLINVAR
GRCh37X135,732,454 - 135,732,454CLINVAR
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 Information

Database Acc Id Source(s)
ClinVar RCV000029463 CLINVAR
dbSNP (RS) rs193922134 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR