rs373480281 Rat Genome Database

rs373480281 Rat Genome Database

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Variant: rs373480281 - Homo sapiens

RGD ID:

127278328

RS ID:

rs373480281

ClinVar ID:

CV1072581

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	5	160,837,974
GRCh38	5	161,410,968

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_000813.3:c.541+7C>G NM_001371727.1:c.541+7C>G NM_021911.3:c.541+7C>G NG_047050.1:g.142157C>G More...	11/13/2023	intron variant	likely benign	Intellectual developmental disorder; intellectual disabilities; Intellectual functioning disability

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1072581	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)
CV1072581	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	RCV001408418	CLINVAR
dbSNP (RS)	rs373480281	CLINVAR
MedGen	C3714756	CLINVAR
NCBI Gene	GABRB2	CLINVAR
OMIM	600232	CLINVAR
SNOMED CT	228156007	CLINVAR