rs2148612254 Rat Genome Database

rs2148612254 Rat Genome Database

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Variant: rs2148612254 - Homo sapiens

RGD ID:

152982918

RS ID:

rs2148612254

ClinVar ID:

CV1677770

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	21	38,862,476
GRCh38	21	37,490,174

JBrowse:

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001347723.2:c.551-1G>A NM_001347721.2:c.638-1G>A NM_001347722.2:c.638-1G>A NM_130436.2:c.638-1G>A More...	05/04/2022	splice acceptor variant	pathogenic	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1677770	Human	autosomal dominant intellectual developmental disorder 7		IAGP		8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar

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

Database	Acc Id	Source(s)
ClinVar	RCV002249923	CLINVAR
dbSNP (RS)	rs2148612254	CLINVAR
MedGen	C5568143	CLINVAR
NCBI Gene	DYRK1A	CLINVAR
OMIM	600855	CLINVAR
	614104	CLINVAR