chr4:90756731:C>G Detail (hg19) (SNCA)

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

Genome

Assembly	Position
hg19	chr4:90,756,731-90,756,731
hg38	chr4:89,835,580-89,835,580 View the variant detail on this assembly version.

HGVS

SNCA

Type	Transcript	Protein
RefSeq	NM_001146055.1:c.88G>C	NP_001139527.1:p.Ala30Pro
	NM_000345.3:c.88G>C	NP_000336.1:p.Ala30Pro
	NM_001146054.1:c.88G>C	NP_001139526.1:p.Ala30Pro
	NM_007308.2:c.88G>C	NP_009292.1:p.Ala30Pro
Ensemble	ENST00000336904.7:c.88G>C	ENST00000336904.7:p.Ala30Pro
	ENST00000345009.8:c.88G>C	ENST00000345009.8:p.Ala30Pro
	ENST00000394986.5:c.88G>C	ENST00000394986.5:p.Ala30Pro
	ENST00000394989.6:c.88G>C	ENST00000394989.6:p.Ala30Pro
	ENST00000394991.8:c.88G>C	ENST00000394991.8:p.Ala30Pro
	ENST00000420646.6:c.88G>C	ENST00000420646.6:p.Ala30Pro
	ENST00000502987.5:c.88G>C	ENST00000502987.5:p.Ala30Pro
	ENST00000505199.5:c.88G>C	ENST00000505199.5:p.Ala30Pro
	ENST00000506244.5:c.88G>C	ENST00000506244.5:p.Ala30Pro
	ENST00000508895.5:c.88G>C	ENST00000508895.5:p.Ala30Pro
	ENST00000611107.1:c.88G>C	ENST00000611107.1:p.Ala30Pro
	ENST00000618500.4:c.88G>C	ENST00000618500.4:p.Ala30Pro
	ENST00000673718.1:c.88G>C	ENST00000673718.1:p.Ala30Pro
	ENST00000673902.1:c.88G>C	ENST00000673902.1:p.Ala30Pro
	ENST00000674129.1:c.88G>C	ENST00000674129.1:p.Ala30Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
Show details

Links

SNCA

Type	Database	ID	Link
Gene	MIM	163890	OMIM
	HGNC	11138	HGNC
	Ensembl	ENSG00000145335	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
Likely pathogenic	2020-11-20	criteria provided, single submitter	Autosomal dominant Parkinson disease 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.001	Parkinson Disease, Familial, Type 1	Autosomal dominant Parkinson disease (PD) is caused by duplication or triplicati...	BeFree	17012252	Detail
0.004	Shy-Drager Syndrome	Later, the discovery of two missense mutations (G88C and G209A), which resulted ...	BeFree	12719631	Detail
0.440	PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)	NA	CLINVAR		Detail
<0.001	HIV Infections	In this study, human wild type and mutant alpha-synuclein genes were fused with ...	BeFree	16756753	Detail
0.024	multiple system atrophy	Later, the discovery of two missense mutations (G88C and G209A), which resulted ...	BeFree	12719631	Detail
0.142	Neurodegenerative Disorders	Later, the discovery of two missense mutations (G88C and G209A), which resulted ...	BeFree	12719631	Detail
0.057	HIV Infections	In this study, human wild type and mutant alpha-synuclein genes were fused with ...	BeFree	16756753	Detail
0.386	Lewy Body Disease	Later, the discovery of two missense mutations (G88C and G209A), which resulted ...	BeFree	12719631	Detail
0.057	HIV Infections	In this study, human wild type and mutant alpha-synuclein genes were fused with ...	BeFree	16756753	Detail
0.494	Parkinson disease	Mutation A30P in the alpha-synuclein gene is a cause of familial Parkinson disea...	BeFree	15099020	Detail
0.494	Parkinson disease	Familial Parkinson disease (PD) due to the A30P mutation in the SNCA gene encodi...	BeFree	20437567	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000345.4(SNCA):c.88G>C (p.Ala30Pro) AND Autosomal dominant Parkinson disease 1	ClinVar	Detail
Autosomal dominant Parkinson disease (PD) is caused by duplication or triplication of the alpha-synu...	DisGeNET	Detail
Later, the discovery of two missense mutations (G88C and G209A), which resulted in Ala30Pro (A30P) a...	DisGeNET	Detail
NA	DisGeNET	Detail
In this study, human wild type and mutant alpha-synuclein genes were fused with a gene fragment enco...	DisGeNET	Detail
Later, the discovery of two missense mutations (G88C and G209A), which resulted in Ala30Pro (A30P) a...	DisGeNET	Detail
Later, the discovery of two missense mutations (G88C and G209A), which resulted in Ala30Pro (A30P) a...	DisGeNET	Detail
In this study, human wild type and mutant alpha-synuclein genes were fused with a gene fragment enco...	DisGeNET	Detail
Later, the discovery of two missense mutations (G88C and G209A), which resulted in Ala30Pro (A30P) a...	DisGeNET	Detail
In this study, human wild type and mutant alpha-synuclein genes were fused with a gene fragment enco...	DisGeNET	Detail
Mutation A30P in the alpha-synuclein gene is a cause of familial Parkinson disease.	DisGeNET	Detail
Familial Parkinson disease (PD) due to the A30P mutation in the SNCA gene encoding alpha-synuclein 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: -
dbSNP: rs104893878 dbSNP
Genome: hg19
Position: chr4:90,756,731-90,756,731
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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