rs1583605716 Rat Genome Database

rs1583605716 Rat Genome Database

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

Advanced Search (OLGA)

Variant: rs1583605716 - Homo sapiens

RGD ID:

21068688

RS ID:

rs1583605716

ClinVar ID:

CV794103

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	6	31,635,749
GRCh38	6	31,667,972

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001282385.2:c.175+2T>G NM_001320.7:c.175+2T>G NC_000006.12:g.31667972T>G NC_000006.11:g.31635749T>G NM_001320.5:c.175+2T>G More...	06/11/2024	splice donor variant	pathogenic	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV794103	Human	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME		IAGP		8554872	ClinVar Annotator: match by term: POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME	ClinVar	PMID:28585349

Gene Symbol:	CSNK2B
Accession:	NM_001320
Location:	INTRON

Gene Symbol:	CSNK2B
Accession:	NM_001282385
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28585349

Database	Acc Id	Source(s)
ClinVar	RCV000993565	CLINVAR
	RCV004818102	CLINVAR
dbSNP (RS)	rs1583605716	CLINVAR
MedGen	C3661900	CLINVAR
	C5231482	CLINVAR
NCBI Gene	CSNK2B	CLINVAR
OMIM	115441	CLINVAR
	618732	CLINVAR
OMIM Allele	115441.0002	CLINVAR