rs185391295 Rat Genome Database

rs185391295 Rat Genome Database

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Variant: rs185391295 - Homo sapiens

RGD ID:

11587719

RS ID:

rs185391295

ClinVar ID:

CV292558

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LRAT

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	4	155,672,817
GRCh38	4	154,751,665

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_009110.1:g.12655C>T NC_000004.12:g.154751665C>T NC_000004.11:g.155672817C>T NM_004744.3:c.*2529C>T More...	01/12/2018	3 prime utr variant	likely benign\|uncertain significance	Inherited retinal dystrophy; Leber's amaurosis; Tapetoretinal degeneration

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV292558	Human	fundus dystrophy		IAGP		8554872	ClinVar Annotator: match by term: Retinal dystrophy	ClinVar
CV292558	Human	Leber congenital amaurosis		IAGP		8554872	ClinVar Annotator: match by term: Leber congenital amaurosis	ClinVar
CV292558	Human	retinitis pigmentosa		IAGP		8554872	ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive	ClinVar

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV292558	Human	Retinal dystrophy		IAGP		8554872	ClinVar Annotator: match by term: Retinal dystrophy	ClinVar
CV292558	Human	Rod-cone dystrophy		IAGP		8554872	ClinVar Annotator: match by term: Retinitis pigmentosa	ClinVar

Gene Symbol:	LRAT
Accession:	NM_004744
Location:	3UTRS;EXON

Gene Symbol:	LRAT
Accession:	NM_001301645
Location:	3UTRS;EXON

Gene Symbol:	LRAT
Accession:	XM_047416405
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV000297399	CLINVAR
	RCV000335951	CLINVAR
	RCV000407189	CLINVAR
dbSNP (RS)	rs185391295	CLINVAR
MedGen	C0035334	CLINVAR
	C0339527	CLINVAR
	C0854723	CLINVAR
NCBI Gene	LRAT	CLINVAR
OMIM	204000	CLINVAR
	268000	CLINVAR
	604863	CLINVAR
SNOMED CT	193413001	CLINVAR
	28835009	CLINVAR
	314407005	CLINVAR