RGD:12845111 Rat Genome Database

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Variant: RGD:12845111 -  Homo sapiens

RGD ID: 12845111
RS ID: rs374505179
ClinVar ID: CV378536
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DYRK1A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 38,865,480
GRCh38 21 37,493,178
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009366.1:g.130622G>A
NC_000021.9:g.37493178G>A
NC_000021.8:g.38865480G>A
NM_001396.3:c.1098+15G>A
More... 		12/13/2021 intron variant benign|likely benign AllHighlyPenetrant; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DYRK1A
Accession:NM_001347722
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_101395
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_001347721
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_001347723
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_130436
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_130438
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_001396
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000439222 CLINVAR
  RCV002062580 CLINVAR
dbSNP (RS) rs374505179 CLINVAR
MedGen C5568143 CLINVAR
  CN169374 CLINVAR
NCBI Gene DYRK1A CLINVAR
OMIM 600855 CLINVAR
  614104 CLINVAR