NM_000074.3(CD40LG):c.359del (p.Pro120fs)Rat Genome Database

Send us a Message



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

Variant : CV818400 (NM_000074.3(CD40LG):c.359del (p.Pro120fs)) Homo sapiens

Symbol: CV818400
Name: NM_000074.3(CD40LG):c.359del (p.Pro120fs)
RGD ID: 25315168
Condition: Hyper-IgM syndrome type 1 [RCV001030051]
Clinical Significance: pathogenic
Last Evaluated: 05/10/2019
Review Status: criteria provided, single submitter
Related Genes: CD40LG  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): LRG_141t1:c.359del
NM_000074.3:c.359del
NC_000023.10:g.135738527del
LRG_141:g.13192del
NG_007280.1:g.13192del
NM_000074.2:c.359delC
NC_000023.11:g.136656368del
NP_000065.1:p.Pro120fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,656,367 - 136,656,367CLINVAR
GRCh37X135,738,526 - 135,738,526CLINVAR
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 RCV001030051 CLINVAR
dbSNP (RS) rs1603321138 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR