rs78428152 Rat Genome Database

rs78428152 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: rs78428152 - Homo sapiens

RGD ID:

12844771

RS ID:

rs78428152

ClinVar ID:

CV379774

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	21	38,865,300
GRCh38	21	37,492,998

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_009366.1:g.130442A>G NC_000021.9:g.37492998A>G NC_000021.8:g.38865300A>G NM_001396.3:c.952-19A>G More...	01/30/2025	intron variant	benign\|likely benign	AllHighlyPenetrant; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV379774	Human	autosomal dominant intellectual developmental disorder 7		IAGP		8554872	ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	ClinVar	PMID:28492532

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:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000438579	CLINVAR
	RCV002058997	CLINVAR
dbSNP (RS)	rs78428152	CLINVAR
MedGen	C5568143	CLINVAR
	CN169374	CLINVAR
NCBI Gene	DYRK1A	CLINVAR
OMIM	600855	CLINVAR
	614104	CLINVAR