RGD:11060103 Rat Genome Database

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Variant: RGD:11060103 -  Homo sapiens

RGD ID: 11060103
RS ID: rs869312953
ClinVar ID: CV226887
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JAK1  LOC126805749  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 65,312,418
GRCh38 1 64,846,735
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
NG_023402.2:g.226012C>A
NC_000001.11:g.64846735G>T
NC_000001.10:g.65312418G>T
NM_001321855.2:c.1901C>A
More... 		09/01/2020 missense variant pathogenic|likely pathogenic all ages 1-9 / 100 000 ATOPIC DERMATITIS, ENTERITIS, COLITIS, AND EOSINOPHILIA; LYMPHOMATOUS ALL

Variant Details
Variant Transcripts
Gene Symbol:JAK1
Accession:NM_001321857
Location:EXON

Gene Symbol:JAK1
Accession:XM_047419675
Location:EXON

Gene Symbol:JAK1
Accession:NM_001320923
Location:EXON

Gene Symbol:JAK1
Accession:XM_047419676
Location:EXON

Gene Symbol:JAK1
Accession:XM_047419674
Location:EXON

Gene Symbol:JAK1
Accession:NM_001321854
Location:EXON

Gene Symbol:JAK1
Accession:NM_001321852
Location:EXON

Gene Symbol:JAK1
Accession:NM_002227
Location:EXON

Gene Symbol:JAK1
Accession:NM_001321856
Location:EXON

Gene Symbol:JAK1
Accession:NM_001321855
Location:EXON

Gene Symbol:JAK1
Accession:XM_047419677
Location:EXON

Gene Symbol:JAK1
Accession:NM_001321853
Location:EXON

Variant Samples
Additional References at PubMed
PMID:20167706   PMID:25356970   PMID:28111307  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000210558 CLINVAR
  RCV000444628 CLINVAR
  RCV001255134 CLINVAR
dbSNP (RS) rs869312953 CLINVAR
MedGen C0950123 CLINVAR
  C1855472 CLINVAR
  C5436572 CLINVAR
NCBI Gene JAK1 CLINVAR
  LOC126805749 CLINVAR
OMIM 147795 CLINVAR
  247640 CLINVAR
  618999 CLINVAR
OMIM Allele 147795.0001 CLINVAR