rs587776930 Rat Genome Database

rs587776930 Rat Genome Database

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Variant: rs587776930 - Homo sapiens

RGD ID:

8570546

RS ID:

rs587776930

ClinVar ID:

CV48222

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	21	38,865,466
GRCh38	21	37,493,164

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_009366.1:g.130608G>A NC_000021.9:g.37493164G>A NC_000021.8:g.38865466G>A NM_001347721.2:c.1071+1G>A More...	05/23/2014	splice donor variant	pathogenic	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV48222	Human	autosomal dominant intellectual developmental disorder 7		IAGP		8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:23160955

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

ClinVar GRCh37	ClinVar GRCh38

PMID:23160955

Database	Acc Id	Source(s)
ClinVar	RCV000032823	CLINVAR
dbSNP (RS)	rs587776930	CLINVAR
MedGen	C5568143	CLINVAR
NCBI Gene	DYRK1A	CLINVAR
OMIM	600855	CLINVAR
	614104	CLINVAR
OMIM Allele	600855.0003	CLINVAR