rs199830550 Rat Genome Database

rs199830550 Rat Genome Database

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Variant: rs199830550 - Homo sapiens

RGD ID:

13791297

RS ID:

rs199830550

ClinVar ID:

CV550225

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ARL2BP LOC124903697

Reference Nucleotide:

G

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	16	57,282,556
GRCh38	16	57,248,644

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_012106.3:c.207+1G>T NG_033905.1:g.8519G>T NC_000016.10:g.57248644G>T NC_000016.9:g.57282556G>T NM_012106.4:c.207+1G>T p.(=) More...	08/08/2018	splice donor variant	pathogenic	Retinitis pigmentosa 82; Retinitis pigmentosa 82 with or without situs inversus

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV550225	Human	retinitis pigmentosa		IAGP		8554872	ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa	ClinVar	PMID:27790702
CV550225	Human	retinitis pigmentosa with or without situs inversus		IAGP		8554872	ClinVar Annotator: match by term: Retinitis pigmentosa 82 with or without situs inversus	ClinVar	PMID:27790702

Gene Symbol:	LOC124903697
Accession:	XR_007065082
Location:	EXON;NON-CODING

Gene Symbol:	ARL2BP
Accession:	XM_047433883
Location:	INTRON

Gene Symbol:	ARL2BP
Accession:	NM_012106
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:27790702

Database	Acc Id	Source(s)
ClinVar	RCV000677195	CLINVAR
	RCV001257803	CLINVAR
dbSNP (RS)	rs199830550	CLINVAR
MedGen	C0339526	CLINVAR
	C4747737	CLINVAR
NCBI Gene	ARL2BP	CLINVAR
OMIM	615407	CLINVAR
	615434	CLINVAR
OMIM Allele	615407.0003	CLINVAR
SNOMED CT	232053004	CLINVAR