RGD:8562003 Rat Genome Database

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Variant: RGD:8562003 -  Homo sapiens

RGD ID: 8562003
RS ID: rs111033626
ClinVar ID: CV25943
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SH2D1A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 123,504,126
GRCh38 X 124,370,276
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_106:g.28977C>T
NG_007464.1:g.28977C>T
NC_000023.11:g.124370276C>T
NC_000023.10:g.123504126C>T
More... 		09/16/2013 missense|missense variant pathogenic childhood <1 / 1 000 000 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: P to L (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAVAVYHGKISRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYHGYIYTYRVSQTETGSWSAETAPGVHKRYFRKI
KNLISAFQKPDQGIVIPLQYLVEKKSSARSTQGIREDPDVCLKAP*

Gene Symbol:SH2D1A
Accession:NM_002351
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAVAVYHGKISRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYHGYIYTYRVSQTETGSWSAETAPGVHKRYFRKI
KNLISAFQKPDQGIVIPLQYLVEKKSSARSTQGTTGIREDPDVCLKAP*
Variant Samples
Additional References at PubMed
PMID:9771704  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011651 CLINVAR
dbSNP (RS) rs111033626 CLINVAR
MedGen C5399825 CLINVAR
NCBI Gene SH2D1A CLINVAR
OMIM 300490 CLINVAR
  308240 CLINVAR
OMIM Allele 300490.0007 CLINVAR