chr4:90749300:C>T Detail (hg19) (SNCA)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr4:90,749,300-90,749,300
hg38	chr4:89,828,149-89,828,149 View the variant detail on this assembly version.

HGVS

SNCA

Type	Transcript	Protein
RefSeq	NM_001146055.1:c.157G>A	NP_001139527.1:p.Ala53Thr
	NM_000345.3:c.157G>A	NP_000336.1:p.Ala53Thr
	NM_001146054.1:c.157G>A	NP_001139526.1:p.Ala53Thr
	NM_007308.2:c.157G>A	NP_009292.1:p.Ala53Thr
Ensemble	ENST00000336904.7:c.157G>A	ENST00000336904.7:p.Ala53Thr
	ENST00000345009.8:c.157G>A	ENST00000345009.8:p.Ala53Thr
	ENST00000394986.5:c.157G>A	ENST00000394986.5:p.Ala53Thr
	ENST00000394989.6:c.122-5761G>A
	ENST00000394991.8:c.157G>A	ENST00000394991.8:p.Ala53Thr
	ENST00000420646.6:c.157G>A	ENST00000420646.6:p.Ala53Thr
	ENST00000502987.5:c.157G>A	ENST00000502987.5:p.Ala53Thr
	ENST00000505199.5:c.122-5761G>A
	ENST00000506244.5:c.157G>A	ENST00000506244.5:p.Ala53Thr
	ENST00000508895.5:c.157G>A	ENST00000508895.5:p.Ala53Thr
	ENST00000611107.1:c.122-5761G>A
	ENST00000618500.4:c.122-5761G>A
	ENST00000673718.1:c.157G>A	ENST00000673718.1:p.Ala53Thr
	ENST00000673902.1:c.157G>A	ENST00000673902.1:p.Ala53Thr
	ENST00000674129.1:c.157G>A	ENST00000674129.1:p.Ala53Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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
Pathogenic	2010-06-01	no assertion criteria provided	Autosomal dominant Parkinson disease 1	germline	Detail
Pathogenic	2017-02-22	criteria provided, single submitter	Autosomal dominant Parkinson disease 1,Lewy body dementia	germline	Detail
Pathogenic	2017-02-22	criteria provided, single submitter	Autosomal dominant Parkinson disease 1,Lewy body dementia	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	Movement Disorders	Mice carrying an Ala53Thr human SNCA transgene driven by the mouse prion promote...	BeFree	15585343	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
0.386	Lewy Body Disease	Abundant neuritic inclusions and microvacuolar changes in a case of diffuse Lewy...	BeFree	15981014	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
0.138	Parkinsonian Disorders	We describe an Australian family of Greek origin with a parkinsonian syndrome an...	BeFree	11261505	Detail
0.057	HIV Infections	In this study, human wild type and mutant alpha-synuclein genes were fused with ...	BeFree	16756753	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000345.4(SNCA):c.157G>A (p.Ala53Thr) AND Autosomal dominant Parkinson disease 1	ClinVar	Detail
NM_000345.4(SNCA):c.157G>A (p.Ala53Thr) AND multiple conditions	ClinVar	Detail
NM_000345.4(SNCA):c.157G>A (p.Ala53Thr) AND multiple conditions	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
Mice carrying an Ala53Thr human SNCA transgene driven by the mouse prion promoter show a mild moveme...	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
Abundant neuritic inclusions and microvacuolar changes in a case of diffuse Lewy body disease with t...	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
We describe an Australian family of Greek origin with a parkinsonian syndrome and an Ala53Thr alpha-...	DisGeNET	Detail
In this study, human wild type and mutant alpha-synuclein genes were fused with a gene fragment enco...	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: rs104893877 dbSNP
Genome: hg19
Position: chr4:90,749,300-90,749,300
Variant Type: snv
Reference Allele: C
Alternative Allele: T

Genome browser