NM_000074.3(CD40LG):c.608G>C (p.Arg203Thr)Rat Genome Database

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Variant : CV849683 (NM_000074.3(CD40LG):c.608G>C (p.Arg203Thr)) Homo sapiens

Symbol: CV849683
Name: NM_000074.3(CD40LG):c.608G>C (p.Arg203Thr)
RGD ID: 26903715
Condition: Hyper-IgM syndrome type 1 [RCV001070826]
Clinical Significance: uncertain significance
Last Evaluated: 04/12/2019
Review Status: criteria provided, single submitter
Related Genes: CD40LG  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_141t1:c.608G>C
NM_000074.3:c.608G>C
LRG_141:g.16061G>C
NG_007280.1:g.16061G>C
NC_000023.11:g.136659237G>C
NC_000023.10:g.135741396G>C
NM_000074.2:c.608G>C
NP_000065.1:p.Arg203Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,659,237 - 136,659,237CLINVAR
GRCh37X135,741,396 - 135,741,396CLINVAR
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:27324886   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001070826 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR