chr1:205744218:C>A Detail (hg19) (RAB29)

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

Genome

Assembly	Position
hg19	chr1:205,744,218-205,744,218
hg38	chr1:205,775,090-205,775,090 View the variant detail on this assembly version.

HGVS

RAB29

Type	Transcript	Protein
RefSeq	NM_001135662.1:c.-130-4G>T
	NM_001135663.1:c.-134G>T
	NM_003929.2:c.-130-4G>T
	NM_001135664.1:c.-93+183G>T
Ensemble	ENST00000235932.8:c.-130-4G>T
	ENST00000446390.6:c.-134G>T
	ENST00000367139.8:c.-130-4G>T
	ENST00000414729.1:c.-134G>T
	ENST00000437324.6:c.-93+183G>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

RAB29

Type	Database	ID	Link
Gene	MIM	603949	OMIM
	HGNC	9789	HGNC
	Ensembl	ENSG00000117280	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	Recently, the rs1572931 single-nucleotide polymorphism (SNP) of the putative pro...	BeFree	25040112	Detail
0.006	Parkinson disease	An association analysis of the rs1572931 polymorphism of the RAB7L1 gene in Park...	BeFree	25040112	Detail
<0.001	multiple system atrophy	An association analysis of the rs1572931 polymorphism of the RAB7L1 gene in Park...	BeFree	25040112	Detail
<0.001	Shy-Drager Syndrome	An association analysis of the rs1572931 polymorphism of the RAB7L1 gene in Park...	BeFree	25040112	Detail

Annotation

Annotations

Descrption	Source	Links
Recently, the rs1572931 single-nucleotide polymorphism (SNP) of the putative promoter of the member ...	DisGeNET	Detail
An association analysis of the rs1572931 polymorphism of the RAB7L1 gene in Parkinson's disease, amy...	DisGeNET	Detail
An association analysis of the rs1572931 polymorphism of the RAB7L1 gene in Parkinson's disease, amy...	DisGeNET	Detail
An association analysis of the rs1572931 polymorphism of the RAB7L1 gene in Parkinson's disease, amy...	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: rs1572931 dbSNP
Genome: hg19
Position: chr1:205,744,218-205,744,218
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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