rs191600425 Rat Genome Database

rs191600425 Rat Genome Database

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Variant: rs191600425 - Homo sapiens

RGD ID:

11586601

RS ID:

rs191600425

ClinVar ID:

CV297406

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LRAT

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	4	155,674,107
GRCh38	4	154,752,955

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View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_009110.1:g.13945T>C NC_000004.12:g.154752955T>C NC_000004.11:g.155674107T>C NM_004744.3:c.*3819T>C More...	06/14/2016	3 prime utr variant	uncertain significance	Leber's amaurosis; Tapetoretinal degeneration

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV297406	Human	Leber congenital amaurosis		IAGP		8554872	ClinVar Annotator: match by term: Leber congenital amaurosis	ClinVar
CV297406	Human	Leber congenital amaurosis 14		IAGP		8554872	ClinVar Annotator: match by term: Leber congenital amaurosis 14	ClinVar
CV297406	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)
CV297406	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	RCV000288916	CLINVAR
	RCV000347237	CLINVAR
	RCV000392699	CLINVAR
dbSNP (RS)	rs191600425	CLINVAR
MedGen	C0035334	CLINVAR
	C0339527	CLINVAR
	C2750063	CLINVAR
NCBI Gene	LRAT	CLINVAR
OMIM	204000	CLINVAR
	268000	CLINVAR
	604863	CLINVAR
	613341	CLINVAR
SNOMED CT	193413001	CLINVAR
	28835009	CLINVAR