RGD:152114945 Rat Genome Database

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Variant: RGD:152114945 -  Homo sapiens

RGD ID: 152114945
RS ID: rs376624219
ClinVar ID: CV1659720
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD40LG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 135,738,591
GRCh38 X 136,656,432
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000074.3:c.409+14C>T
LRG_141:g.13256C>T
NG_007280.1:g.13256C>T
NC_000023.11:g.136656432C>T
More... 		11/12/2021 intron variant likely benign 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002080764 CLINVAR
dbSNP (RS) rs376624219 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR