rs72683214 Rat Genome Database

rs72683214 Rat Genome Database

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Variant: rs72683214 - Homo sapiens

RGD ID:

11587577

RS ID:

rs72683214

ClinVar ID:

CV297336

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LRAT

Reference Nucleotide:

T

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	4	155,671,443
GRCh38	4	154,750,291

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001301645.2:c.*1155T>A NG_009110.1:g.11281T>A NC_000004.12:g.154750291T>A NC_000004.11:g.155671443T>A More...	01/12/2018	3 prime utr variant	uncertain significance	Inherited retinal dystrophy; Tapetoretinal degeneration

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV297336	Human	fundus dystrophy		IAGP		8554872	ClinVar Annotator: match by term: Retinal dystrophy	ClinVar
CV297336	Human	Leber congenital amaurosis 14		IAGP		8554872	ClinVar Annotator: match by term: Leber congenital amaurosis 14	ClinVar
CV297336	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)
CV297336	Human	Retinal dystrophy		IAGP		8554872	ClinVar Annotator: match by term: Retinal dystrophy	ClinVar
CV297336	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	RCV000296050	CLINVAR
	RCV000348534	CLINVAR
	RCV000406170	CLINVAR
dbSNP (RS)	rs72683214	CLINVAR
MedGen	C0035334	CLINVAR
	C0854723	CLINVAR
	C2750063	CLINVAR
NCBI Gene	LRAT	CLINVAR
OMIM	268000	CLINVAR
	604863	CLINVAR
	613341	CLINVAR
SNOMED CT	28835009	CLINVAR
	314407005	CLINVAR