rs528370871 Rat Genome Database

rs528370871 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: rs528370871 - Homo sapiens

RGD ID:

11646039

RS ID:

rs528370871

ClinVar ID:

CV297355

Genic Status:

GENIC

Type:

insertion (SO:0000667)

Associated Genes:

LRAT

Reference Nucleotide:

-

Variant Nucleotide:

ATG

Position

Assembly	Chr	Position
GRCh37	4	155,673,029
GRCh38	4	154,751,877

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_004744.3:c.2741_2743dupATG NM_001301645.2:c.2741_2743dup NG_009110.1:g.12867_12869dup NM_004744.5:c.2741_2743dup More...	06/14/2016	3 prime utr variant	uncertain significance	Inherited retinal dystrophy; Leber's amaurosis

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV297355	Human	fundus dystrophy		IAGP		8554872	ClinVar Annotator: match by term: Retinal dystrophy	ClinVar
CV297355	Human	Leber congenital amaurosis		IAGP		8554872	ClinVar Annotator: match by term: Leber congenital amaurosis	ClinVar
CV297355	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)
CV297355	Human	Retinal dystrophy		IAGP		8554872	ClinVar Annotator: match by term: Retinal dystrophy	ClinVar

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV000268807	CLINVAR
	RCV000326252	CLINVAR
	RCV000378596	CLINVAR
dbSNP (RS)	rs528370871	CLINVAR
MedGen	C0339527	CLINVAR
	C0854723	CLINVAR
	CN239466	CLINVAR
NCBI Gene	LRAT	CLINVAR
OMIM	204000	CLINVAR
	604863	CLINVAR
SNOMED CT	193413001	CLINVAR
	314407005	CLINVAR