RGD:38494755 Rat Genome Database

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Variant: RGD:38494755 -  Homo sapiens

RGD ID: 38494755
RS ID: rs1569527113
ClinVar ID: CV929557
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SH2D1A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 123,480,621
GRCh38 X 124,346,771
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001114937.3:c.129A>G
LRG_106t1:c.129A>G
NM_002351.5:c.129A>G
LRG_106:g.5472A>G
More... 		03/19/2022 synonymous variant likely 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 Transcripts
Gene Symbol:SH2D1A
Accession:NM_001114937
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAVAVYHGKISRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYHGYIYTYRVSQTETGSWSAETAPGVHKRYFRKI
KNLISAFQKPDQGIVIPLQYPVEKKSSARSTQGIREDPDVCLKAP*

Gene Symbol:SH2D1A
Accession:NM_002351
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAVAVYHGKISRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYHGYIYTYRVSQTETGSWSAETAPGVHKRYFRKI
KNLISAFQKPDQGIVIPLQYPVEKKSSARSTQGTTGIREDPDVCLKAP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001225205 CLINVAR
dbSNP (RS) rs1569527113 CLINVAR
MedGen C5399825 CLINVAR
NCBI Gene SH2D1A CLINVAR
OMIM 300490 CLINVAR
  308240 CLINVAR