NM_000074.2(CD40LG):c.761C>A (p.Thr254Lys)Rat Genome Database

Send us a Message



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

Variant : CV534547 (NM_000074.2(CD40LG):c.761C>A (p.Thr254Lys)) Homo sapiens

Symbol: CV534547
Name: NM_000074.2(CD40LG):c.761C>A (p.Thr254Lys)
RGD ID: 13620836
Condition: Hyper-IgM syndrome type 1 [RCV000636648]
Clinical Significance: likely pathogenic
Last Evaluated: 10/31/2018
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): NM_000074.2:c.761C>A
LRG_141t1:c.761C>A
LRG_141:g.16214C>A
NG_007280.1:g.16214C>A
NC_000023.11:g.136659390C>A
NC_000023.10:g.135741549C>A
LRG_141p1:p.Thr254Lys
NP_000065.1:p.Thr254Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,659,390 - 136,659,390CLINVAR
GRCh37X135,741,549 - 135,741,549CLINVAR
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:8889581   PMID:10484640   PMID:25541662   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000636648 CLINVAR
dbSNP (RS) rs193922136 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR