NM_000074.3(CD40LG):c.418T>C (p.Trp140Arg)Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant : CV964569 (NM_000074.3(CD40LG):c.418T>C (p.Trp140Arg)) Homo sapiens

Symbol: CV964569
Name: NM_000074.3(CD40LG):c.418T>C (p.Trp140Arg)
RGD ID: 38598196
Condition: Hyper-IgM syndrome type 1 [RCV001253461]
Clinical Significance: pathogenic
Last Evaluated: 01/01/2017
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.418T>C
NM_000074.3:c.418T>C
LRG_141:g.15871T>C
NG_007280.1:g.15871T>C
NC_000023.11:g.136659047T>C
NC_000023.10:g.135741206T>C
NP_000065.1:p.Trp140Arg
NM_000074.2:c.418T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,659,047 - 136,659,047CLINVAR
GRCh37X135,741,206 - 135,741,206CLINVAR
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:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001253461 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR