NM_000074.3(CD40LG):c.133del (p.Tyr45fs)Rat Genome Database

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Variant : CV951623 (NM_000074.3(CD40LG):c.133del (p.Tyr45fs)) Homo sapiens

Symbol: CV951623
Name: NM_000074.3(CD40LG):c.133del (p.Tyr45fs)
RGD ID: 38484064
Condition: Hyper-IgM syndrome type 1 [RCV001236186]
Clinical Significance: pathogenic
Last Evaluated: 10/07/2019
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.133del
NM_000074.3:c.133del
LRG_141:g.5205del
NG_007280.1:g.5205del
NC_000023.11:g.136648381del
NC_000023.10:g.135730540del
NM_000074.2:c.133del
NP_000065.1:p.Tyr45fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,648,381 - 136,648,381CLINVAR
GRCh37X135,730,540 - 135,730,540CLINVAR
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:15319456   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001236186 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR