RGD:11627061 Rat Genome Database

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Variant: RGD:11627061 -  Homo sapiens

RGD ID: 11627061
RS ID: rs190166840
ClinVar ID: CV352745
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 123,480,246
GRCh38 X 124,346,396
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_106t1:c.-247G>A
LRG_106:g.5097G>A
NG_007464.1:g.5097G>A
NC_000023.11:g.124346396G>A
More... 		01/13/2018 5 prime utr variant benign|uncertain significance Duncan disease; Duncan's syndrome; EBV infection severe susceptibility to; Epstein Barr virus infection familial fatal; IMMUNODEFICIENCY 5; IMMUNODEFICIENCY, X-LINKED PROGRESSIVE COMBINED VARIABLE; INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO; Lymphoproliferative syndrome 1, X-linked; Purtilo syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000274348 CLINVAR
dbSNP (RS) rs190166840 CLINVAR
MedGen C5399825 CLINVAR
NCBI Gene SH2D1A CLINVAR
OMIM 300490 CLINVAR
  308240 CLINVAR