rs759226981 Rat Genome Database

rs759226981 Rat Genome Database

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Variant: rs759226981 - Homo sapiens

RGD ID:

14397100

RS ID:

rs759226981

ClinVar ID:

CV612706

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	5	160,721,441
GRCh38	5	161,294,434

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001371727.1:c.1192-6T>G NG_047050.1:g.258691T>G NC_000005.10:g.161294434A>C NC_000005.9:g.160721441A>C More...	08/22/2022	intron variant	likely benign\|uncertain significance	Intellectual developmental disorder; intellectual disabilities; Intellectual functioning disability; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV612706	Human	intellectual disability		IAGP		8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV612706	Human	Intellectual disability		IAGP		8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:28492532

Gene Symbol:	GABRB2
Accession:	NM_000813
Location:	INTRON

Gene Symbol:	GABRB2
Accession:	NM_021911
Location:	INTRON

Gene Symbol:	GABRB2
Accession:	NM_001371727
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000762244	CLINVAR
	RCV001300510	CLINVAR
dbSNP (RS)	rs759226981	CLINVAR
MedGen	C3661900	CLINVAR
	C3714756	CLINVAR
NCBI Gene	GABRB2	CLINVAR
OMIM	600232	CLINVAR
SNOMED CT	228156007	CLINVAR