NM_000074.3(CD40LG):c.556C>T (p.Gln186Ter)Rat Genome Database

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Variant : CV951624 (NM_000074.3(CD40LG):c.556C>T (p.Gln186Ter)) Homo sapiens

Symbol: CV951624
Name: NM_000074.3(CD40LG):c.556C>T (p.Gln186Ter)
RGD ID: 38496681
Condition: Hyper-IgM syndrome type 1 [RCV001226556]
Clinical Significance: pathogenic
Last Evaluated: 09/06/2019
Review Status: criteria provided, single submitter
Related Genes: CD40LG  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): LRG_141t1:c.556C>T
NM_000074.3:c.556C>T
LRG_141:g.16009C>T
NG_007280.1:g.16009C>T
NC_000023.11:g.136659185C>T
NC_000023.10:g.135741344C>T
NM_000074.2:c.556C>T
NP_000065.1:p.Gln186Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,659,185 - 136,659,185CLINVAR
GRCh37X135,741,344 - 135,741,344CLINVAR
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

Additional References at PubMed
PMID:8550833   PMID:9746782   PMID:18805740   PMID:20591076   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001226556 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR