chr4:5783715:G>T Detail (hg38) (EVC)

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

Genome

Assembly	Position
hg19	chr4:5,785,442-5,785,442 View the variant detail on this assembly version.
hg38	chr4:5,783,715-5,783,715

HGVS

EVC

Type	Transcript	Protein
RefSeq	NM_001306090.1:c.1727G>T	NP_001293019.1:p.Arg576Leu
	NM_153717.2:c.1727G>T	NP_714928.1:p.Arg576Leu
Ensemble	ENST00000264956.11:c.1727G>T	ENST00000264956.11:p.Arg576Leu

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	Uncertain significance
Review star
Show details

Links

EVC

Type	Database	ID	Link
Gene	MIM	604831	OMIM
	HGNC	3497	HGNC
	Ensembl	ENSG00000072840	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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2021-12-12	criteria provided, single submitter	Curry-Hall syndrome,Ellis-Van Creveld syndrome	germline	Detail
Uncertain significance	2021-12-12	criteria provided, single submitter	Curry-Hall syndrome,Ellis-Van Creveld syndrome	germline	Detail

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
NM_153717.3(EVC):c.1727G>T (p.Arg576Leu) AND multiple conditions	ClinVar	Detail
NM_153717.3(EVC):c.1727G>T (p.Arg576Leu) AND multiple conditions	ClinVar	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
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: -
dbSNP: rs1383180 dbSNP
Genome: hg38
Position: chr4:5,783,715-5,783,715
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8240
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): 117704
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.398355196085095E-5

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