NM_000074.2(CD40LG):c.410-13T>CRat Genome Database

Send us a Message



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

Variant : CV508949 (NM_000074.2(CD40LG):c.410-13T>C) Homo sapiens

Symbol: CV508949
Name: NM_000074.2(CD40LG):c.410-13T>C
RGD ID: 13528273
Condition: Hyper-IgM syndrome type 1 [RCV000603610]
Clinical Significance: benign
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: CD40LG  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_141:g.15850T>C
NC_000023.11:g.136659026T>C
NM_000074.2:c.410-13T>C
LRG_141t1:c.410-13T>C
NG_007280.1:g.15850T>C
NC_000023.10:g.135741185T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,659,026 - 136,659,026CLINVAR
GRCh37X135,741,185 - 135,741,185CLINVAR
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 Information

Database Acc Id Source(s)
ClinVar RCV000603610 CLINVAR
dbSNP (RS) rs3092923 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR