rs2148574292 Rat Genome Database

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Variant: rs2148574292 -  Homo sapiens

RGD ID: 127286180
RS ID: rs2148574292
ClinVar ID: CV1161855
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DYRK1A  LOC105372797  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 38,851,448
GRCh38 21 37,479,146
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001396.5:c.327+846A>G
NM_101395.2:c.327+846A>G
NM_130438.2:c.327+846A>G
NM_001347723.2:c.213+846A>G
More... 		intron variant pathogenic
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1161855HumanDevelopmental Disabilities  IAGP 8554872ClinVar Annotator: match by term: Global developmental delayClinVarPMID:25741868

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1161855HumanGlobal developmental delay  IAGP 8554872ClinVar Annotator: match by term: Global developmental delayClinVarPMID:25741868
Gene Symbol:DYRK1A
Accession:NM_101395
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_130436
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_130438
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_001396
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_001347722
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_001347721
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_001347723
Location:INTRON

Gene Symbol:LOC105372797
Accession:XR_001755034
Location:INTRON;NON-CODING

Gene Symbol:LOC105372797
Accession:XR_002958655
Location:INTRON;NON-CODING

Gene Symbol:LOC105372797
Accession:XR_002958654
Location:INTRON;NON-CODING

.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV001526589 CLINVAR
dbSNP (RS) rs2148574292 CLINVAR
MedGen C0557874 CLINVAR
NCBI Gene DYRK1A CLINVAR
OMIM 600855 CLINVAR