chr1:53250744:G>T Detail (hg38) (LRP8)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr1:53,716,416-53,716,416 View the variant detail on this assembly version.
hg38	chr1:53,250,744-53,250,744

HGVS

LRP8

Type	Transcript	Protein
RefSeq	NM_004631.4:c.2622C>A	NP_004622.2:p.Asp874Glu
	NM_033300.3:c.2112C>A	NP_150643.2:p.Asp704Glu
	NM_017522.4:c.2010C>A	NP_059992.3:p.Asp670Glu
	NM_001018054.2:c.2622C>A	NP_001018064.1:p.Asp874Glu
Ensemble	ENST00000306052.12:c.2622C>A	ENST00000306052.12:p.Asp874Glu
	ENST00000347547.7:c.2112C>A	ENST00000347547.7:p.Asp704Glu
	ENST00000354412.7:c.2010C>A	ENST00000354412.7:p.Asp670Glu
	ENST00000371454.6:c.2622C>A	ENST00000371454.6:p.Asp874Glu
	ENST00000657895.1:c.2103C>A	ENST00000657895.1:p.Asp701Glu
	ENST00000658277.1:c.1857C>A	ENST00000658277.1:p.Asp619Glu
	ENST00000662198.1:c.2235C>A	ENST00000662198.1:p.Asp745Glu
	ENST00000662604.1:c.2106C>A	ENST00000662604.1:p.Asp702Glu
	ENST00000667377.1:c.2622C>A	ENST00000667377.1:p.Asp874Glu
	ENST00000668448.1:c.2397C>A	ENST00000668448.1:p.Asp799Glu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

LRP8

Type	Database	ID	Link
Gene	MIM	602600	OMIM
	HGNC	6700	HGNC
	Ensembl	ENSG00000157193	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.003	schizophrenia	HIMS replication analysis supported rs439401 (APOE regulatory region), and rs229...	BeFree	22419519	Detail

Annotation

Annotations

Descrption	Source	Links
HIMS replication analysis supported rs439401 (APOE regulatory region), and rs2297660 and rs3737983 (...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg38
Position: chr1:53,250,744-53,250,744
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8646
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121364
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.647935137272997E-5

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