RGD:156334297 Rat Genome Database

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Variant: RGD:156334297 -  Homo sapiens

RGD ID: 156334297
ClinVar ID: CV2000861
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DYRK1A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 38,884,195
GRCh38 21 37,511,892
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_101395.2:c.*48-19T>C
NM_130438.2:c.1547-19T>C
NM_001347723.2:c.1558-19T>C
NM_001347721.2:c.1645-19T>C
More... 		11/08/2022 intron variant likely benign INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2000861Humanautosomal dominant intellectual developmental disorder 7  IAGP 8554872ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndromeClinVarPMID:28492532
Gene Symbol:DYRK1A
Accession:NM_101395
Location:3UTRS;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

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002649990 CLINVAR
MedGen C5568143 CLINVAR
NCBI Gene DYRK1A CLINVAR
OMIM 600855 CLINVAR
  614104 CLINVAR