NM_000074.2(CD40LG):c.773T>C (p.Leu258Ser)Rat Genome Database

Send us a Message



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

Variant : CV573597 (NM_000074.2(CD40LG):c.773T>C (p.Leu258Ser)) Homo sapiens

Symbol: CV573597
Name: NM_000074.2(CD40LG):c.773T>C (p.Leu258Ser)
RGD ID: 13814121
Condition: Hyper-IgM syndrome type 1 [RCV000690645]
Clinical Significance: uncertain significance
Last Evaluated: 06/30/2018
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.773T>C
LRG_141:g.16226T>C
NG_007280.1:g.16226T>C
NC_000023.11:g.136659402T>C
NC_000023.10:g.135741561T>C
LRG_141p1:p.Leu258Ser
NP_000065.1:p.Leu258Ser
NM_000074.2:c.773T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,659,402 - 136,659,402CLINVAR
GRCh37X135,741,561 - 135,741,561CLINVAR
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:9746782   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000690645 CLINVAR
dbSNP (RS) rs1569377884 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR