RGD:14708248 Rat Genome Database

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Variant: RGD:14708248 -  Homo sapiens

RGD ID: 14708248
RS ID: rs1603321716
ClinVar ID: CV653494
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: CD40LG  
Reference Nucleotide: CA
Variant Nucleotide: --
Position
Assembly Chr Position
GRCh37 X 135,741,194 - 135,741,196
GRCh38 X 136,659,035 - 136,659,037
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.136659036_136659037del
NM_000074.2:c.410-3_410-2delCA
NC_000023.10:g.135741194_135741195delAC
NC_000023.10:g.135741194_135741195del
More... 		03/21/2019 splice acceptor variant uncertain significance Hyper IgM immunodeficiency, X-linked; Hyper-IgM Immunodeficiency Syndrome, Type 1; Immunodeficiency with hyper IgM type 1; X-linked hyper-IgM syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CD40LG
Accession:NM_000074
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000819948 CLINVAR
dbSNP (RS) rs1603321716 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR