rs1010347467 Rat Genome Database

rs1010347467 Rat Genome Database

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Variant: rs1010347467 - Homo sapiens

RGD ID:

39456322

RS ID:

rs1010347467

ClinVar ID:

CV966584

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LRAT

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	4	155,665,965
GRCh38	4	154,744,813

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_004744.5:c.487C>T NG_009110.1:g.5803C>T NM_001301645.2:c.487C>T NC_000004.12:g.154744813C>T More...	09/28/2021	missense variant	likely pathogenic\|uncertain significance	AllHighlyPenetrant

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV966584	Human	Leber congenital amaurosis 14		IAGP		8554872	ClinVar Annotator: match by term: Leber congenital amaurosis 14	ClinVar

Gene Symbol:	LRAT
Accession:	NM_004744
Location:	EXON
Amino Acid Prediction:	H to Y (nonsynonymous)
Amino Acid Position:	163

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLA LTDDMGRTQKVVSNKRLILGVIVKVASIRVDTVEDFAYGANILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNN CEYFVTYCRYGTPISPQSDKFCETVKIIIRDQRSVLASAVLGLASIVCTGLVSYTTLPAIFIPFFLWMAG*

Gene Symbol:	LRAT
Accession:	NM_001301645
Location:	EXON
Amino Acid Prediction:	H to Y (nonsynonymous)
Amino Acid Position:	163

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLA LTDDMGRTQKVVSNKRLILGVIVKVASIRVDTVEDFAYGANILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNN CEYFVTYCRYGTPISPQSDKFCETVKIIIRDQRSVLASAVLGLASIVCTGLVSYTTLPAIFIPFFLWMAG*

Gene Symbol:	LRAT
Accession:	XM_047416405
Location:	EXON
Amino Acid Prediction:	H to Y (nonsynonymous)
Amino Acid Position:	163

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLA LTDDMGRTQKVVSNKRLILGVIVKVASIRVDTVEDFAYGANILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNN CEYFVTYCRYGTPISPQSDKHVEEYRGLVHQTSQLILRTI*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV001257117	CLINVAR
	RCV001732094	CLINVAR
dbSNP (RS)	rs1010347467	CLINVAR
MedGen	C2750063	CLINVAR
	CN169374	CLINVAR
NCBI Gene	LRAT	CLINVAR
OMIM	604863	CLINVAR
	613341	CLINVAR