NM_000074.3(CD40LG):c.474del (p.Lys159fs)Rat Genome Database

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Variant : CV849679 (NM_000074.3(CD40LG):c.474del (p.Lys159fs)) Homo sapiens

Symbol: CV849679
Name: NM_000074.3(CD40LG):c.474del (p.Lys159fs)
RGD ID: 26902861
Condition: Hyper-IgM syndrome type 1 [RCV001066545]
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.474del
NM_000074.3:c.474del
LRG_141:g.15927del
NG_007280.1:g.15927del
NC_000023.11:g.136659103del
NC_000023.10:g.135741262del
NM_000074.2:c.474del
NP_000065.1:p.Lys159fs
NC_000023.10:g.135741260del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,659,101 - 136,659,101CLINVAR
GRCh37X135,741,260 - 135,741,260CLINVAR
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:7906987   PMID:15358621   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001066545 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR