NM_000074.3(CD40LG):c.508dup (p.Tyr170fs)Rat Genome Database

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Variant : CV849680 (NM_000074.3(CD40LG):c.508dup (p.Tyr170fs)) Homo sapiens

Symbol: CV849680
Name: NM_000074.3(CD40LG):c.508dup (p.Tyr170fs)
RGD ID: 26901744
Condition: Hyper-IgM syndrome type 1 [RCV001060070]
Clinical Significance: pathogenic
Last Evaluated: 07/30/2019
Review Status: criteria provided, single submitter
Related Genes: CD40LG  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): LRG_141t1:c.508dup
NM_000074.3:c.508dup
LRG_141:g.15961dup
NG_007280.1:g.15961dup
NC_000023.11:g.136659137dup
NC_000023.10:g.135741296dup
NM_000074.2:c.508dup
NP_000065.1:p.Tyr170fs
NC_000023.10:g.135741294_135741295insT
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,659,135 - 136,659,136CLINVAR
GRCh37X135,741,294 - 135,741,295CLINVAR
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001060070 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR