chr4:3234980:G>T Detail (hg19) (HTT)

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

Genome

Assembly	Position
hg19	chr4:3,234,980-3,234,980
hg38	chr4:3,233,253-3,233,253 View the variant detail on this assembly version.

HGVS

HTT

Type	Transcript	Protein
RefSeq	NM_002111.7:c.8356G>T	NP_002102.4:p.Val2786Phe
Ensemble	ENST00000355072.11:c.8356G>T	ENST00000355072.11:p.Val2786Phe
	ENST00000680956.1:c.8098G>T	ENST00000680956.1:p.Val2700Phe
	ENST00000681528.1:c.8188G>T	ENST00000681528.1:p.Val2730Phe

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

HTT

Type	Database	ID	Link
Gene	MIM	613004	OMIM
	HGNC	4851	HGNC
	Ensembl	ENSG00000197386	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
<0.001	Completed Suicide	The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs36...	BeFree	19115052	Detail
<0.001	Completed Suicide	The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs36...	BeFree	19115052	Detail
<0.001	Completed Suicide	The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs36...	BeFree	19115052	Detail

Annotation

Annotations

Descrption	Source	Links
The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs362272 in HTT gene, an...	DisGeNET	Detail
The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs362272 in HTT gene, an...	DisGeNET	Detail
The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs362272 in HTT gene, an...	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: hg19
Position: chr4:3,234,980-3,234,980
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8560
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): 120100
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 0
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.32639467110741E-6

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