rs538201546 Rat Genome Database

rs538201546 Rat Genome Database

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Variant: rs538201546 - Homo sapiens

RGD ID:

28904756

RS ID:

rs538201546

ClinVar ID:

CV890304

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LRAT

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	4	155,672,746
GRCh38	4	154,751,594

JBrowse:

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_004744.5:c.*2458C>T NG_009110.1:g.12584C>T NC_000004.12:g.154751594C>T NC_000004.11:g.155672746C>T More...	01/13/2018	3 prime utr variant	uncertain significance	Tapetoretinal degeneration

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV890304	Human	Leber congenital amaurosis 14		IAGP		8554872	ClinVar Annotator: match by term: Leber congenital amaurosis 14	ClinVar
CV890304	Human	retinitis pigmentosa		IAGP		8554872	ClinVar Annotator: match by term: Retinitis pigmentosa	ClinVar

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV890304	Human	Rod-cone dystrophy		IAGP		8554872	ClinVar Annotator: match by term: Retinitis pigmentosa	ClinVar

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

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

Gene Symbol:	LRAT
Accession:	XM_047416405
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV001144610	CLINVAR
	RCV001144611	CLINVAR
dbSNP (RS)	rs538201546	CLINVAR
MedGen	C0035334	CLINVAR
	C2750063	CLINVAR
NCBI Gene	LRAT	CLINVAR
OMIM	268000	CLINVAR
	604863	CLINVAR
	613341	CLINVAR
SNOMED CT	28835009	CLINVAR