RGD:13704050 Rat Genome Database

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Variant: RGD:13704050 -  Homo sapiens

RGD ID: 13704050
RS ID: rs1556619319
ClinVar ID: CV538284
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SH2D1A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 123,480,497
GRCh38 X 124,346,647
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002351.4:c.5A>G
LRG_782:g.391088A>G
NG_033796.2:g.391088A>G
NP_001108409.1:p.Asp2Gly
More... 		09/07/2018 missense variant likely pathogenic 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; none provided; Purtilo syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SH2D1A
Accession:NM_001114937
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAVAVYHGKISRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYHGYIYTYRVSQTETGSWSAETAPGVHKRYFRKI
KNLISAFQKPDQGIVIPLQYPVEKKSSARSTQGIREDPDVCLKAP*

Gene Symbol:SH2D1A
Accession:NM_002351
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAVAVYHGKISRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYHGYIYTYRVSQTETGSWSAETAPGVHKRYFRKI
KNLISAFQKPDQGIVIPLQYPVEKKSSARSTQGTTGIREDPDVCLKAP*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000660264 CLINVAR
  RCV000788711 CLINVAR
dbSNP (RS) rs1556619319 CLINVAR
MedGen C5399825 CLINVAR
  CN517202 CLINVAR
NCBI Gene SH2D1A CLINVAR
OMIM 300490 CLINVAR
  308240 CLINVAR