chr6:144491010:C>T Detail (hg38) (UTRN)

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

Genome

Assembly	Position
hg19	chr6:144,812,146-144,812,146 View the variant detail on this assembly version.
hg38	chr6:144,491,010-144,491,010

HGVS

UTRN

Type	Transcript	Protein
RefSeq	NM_007124.2:c.4345C>T	NP_009055.2:p.Arg1449Cys
Ensemble	ENST00000367545.8:c.4345C>T	ENST00000367545.8:p.Arg1449Cys

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

UTRN

Type	Database	ID	Link
Gene	MIM	128240	OMIM
	HGNC	12635	HGNC
	Ensembl	ENSG00000152818	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	Parkinson Disease, Familial, Type 1	We demonstrated that wild-type (WT) LRRK2 expression caused mitochondrial fragme...	BeFree	22228096	Detail

Annotation

Annotations

Descrption	Source	Links
We demonstrated that wild-type (WT) LRRK2 expression caused mitochondrial fragmentation along with i...	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: chr6:144,491,010-144,491,010
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8632
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): 120954
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.267605866693123E-6

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