rs1035206645 Rat Genome Database

rs1035206645 Rat Genome Database

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Variant: rs1035206645 - Homo sapiens

RGD ID:

21071344

RS ID:

rs1035206645

ClinVar ID:

CV790445

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LRAT

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	4	155,665,776
GRCh38	4	154,744,624

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001301645.2:c.298G>A NM_004744.5:c.298G>A NG_009110.1:g.5614G>A NC_000004.12:g.154744624G>A More...	07/29/2022	missense variant	pathogenic\|uncertain significance	AMAUROSIS CONGENITA OF LEBER I; Congenital absence of the rods and cones; Leber's congenital tapetoretinal degeneration; Leber's congenital tapetoretinal dysplasia; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Retinal blindness, congenital

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV790445	Human	Leber congenital amaurosis 1		IAGP		8554872	ClinVar Annotator: match by term: Leber congenital amaurosis 1	ClinVar	PMID:25472526\|PMID:28492532\|PMID:32865313

Gene Symbol:	LRAT
Accession:	NM_004744
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	100

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLA LTDDMGRTQKVVSNKRLILSVIVKVASIRVDTVEDFAYGANILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNN CEHFVTYCRYGTPISPQSDKFCETVKIIIRDQRSVLASAVLGLASIVCTGLVSYTTLPAIFIPFFLWMAG*

Gene Symbol:	LRAT
Accession:	NM_001301645
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	100

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLA LTDDMGRTQKVVSNKRLILSVIVKVASIRVDTVEDFAYGANILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNN CEHFVTYCRYGTPISPQSDKFCETVKIIIRDQRSVLASAVLGLASIVCTGLVSYTTLPAIFIPFFLWMAG*

Gene Symbol:	LRAT
Accession:	XM_047416405
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	100

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLA LTDDMGRTQKVVSNKRLILSVIVKVASIRVDTVEDFAYGANILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNN CEHFVTYCRYGTPISPQSDKHVEEYRGLVHQTSQLILRTI*

ClinVar GRCh37	ClinVar GRCh38

PMID:25472526	PMID:28492532	PMID:32865313

Database	Acc Id	Source(s)
ClinVar	RCV000987483	CLINVAR
	RCV002549681	CLINVAR
dbSNP (RS)	rs1035206645	CLINVAR
MedGen	C2931258	CLINVAR
	C3661900	CLINVAR
NCBI Gene	LRAT	CLINVAR
OMIM	204000	CLINVAR
	604863	CLINVAR