NC_000023.11:g.(?_136654353)_(136654450_?)delRat Genome Database

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Variant : CV653378 (NC_000023.11:g.(?_136654353)_(136654450_?)del) Homo sapiens

Symbol: CV653378
Name: NC_000023.11:g.(?_136654353)_(136654450_?)del
RGD ID: 14713283
Condition: Hyper-IgM syndrome type 1 [RCV000792783]
Clinical Significance: pathogenic
Last Evaluated: 11/06/2018
Review Status: criteria provided, single submitter
Related Genes: CD40LG  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.10:g.(?_135736512)_(135736609_?)del
NC_000023.11:g.(?_136654353)_(136654450_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,654,353 - 136,654,450CLINVAR
GRCh37X135,736,512 - 135,736,609CLINVAR
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:14641931   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000792783 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR