RGD:13475549 Rat Genome Database

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Variant: RGD:13475549 -  Homo sapiens

RGD ID: 13475549
RS ID: rs1555991325
ClinVar ID: CV446323
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DYRK1A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 38,878,400
GRCh38 21 37,506,097
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001347721.2:c.1520-2A>G
NM_001347722.2:c.1520-2A>G
NC_000021.9:g.37506097A>G
NM_001396.5:c.1547-2A>G
More... 		09/07/2017 intron variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_001347723
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_101395
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_130438
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_001347721
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_130436
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_001396
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_001347722
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000519915 CLINVAR
dbSNP (RS) rs1555991325 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene DYRK1A CLINVAR
OMIM 600855 CLINVAR