RGD:28884271 Rat Genome Database

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Variant: RGD:28884271 -  Homo sapiens

RGD ID: 28884271
RS ID: rs778956197
ClinVar ID: CV902770
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SH2D1A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 123,506,318
GRCh38 X 124,372,468
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_106:g.31169G>A
NM_001114937.3:c.*1077G>A
LRG_782:g.416909G>A
LRG_106t1:c.*1077G>A
More... 		01/12/2018 3 prime utr variant 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 Transcripts
Gene Symbol:SH2D1A
Accession:NM_002351
Location:3UTRS;EXON

Gene Symbol:SH2D1A
Accession:NM_001114937
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001168446 CLINVAR
dbSNP (RS) rs778956197 CLINVAR
MedGen C5399825 CLINVAR
NCBI Gene SH2D1A CLINVAR
OMIM 300490 CLINVAR
  308240 CLINVAR