chr4:90749305:C>T 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	chr4:90,749,305-90,749,305
hg38	chr4:89,828,154-89,828,154 View the variant detail on this assembly version.

HGVS

SNCA

Type	Transcript	Protein
RefSeq	NM_001146055.1:c.152G>A	NP_001139527.1:p.Gly51Asp
	NM_000345.3:c.152G>A	NP_000336.1:p.Gly51Asp
	NM_001146054.1:c.152G>A	NP_001139526.1:p.Gly51Asp
	NM_007308.2:c.152G>A	NP_009292.1:p.Gly51Asp
Ensemble	ENST00000336904.7:c.152G>A	ENST00000336904.7:p.Gly51Asp
	ENST00000345009.8:c.152G>A	ENST00000345009.8:p.Gly51Asp
	ENST00000394986.5:c.152G>A	ENST00000394986.5:p.Gly51Asp
	ENST00000394989.6:c.122-5766G>A
	ENST00000394991.8:c.152G>A	ENST00000394991.8:p.Gly51Asp
	ENST00000420646.6:c.152G>A	ENST00000420646.6:p.Gly51Asp
	ENST00000502987.5:c.152G>A	ENST00000502987.5:p.Gly51Asp
	ENST00000505199.5:c.122-5766G>A
	ENST00000506244.5:c.152G>A	ENST00000506244.5:p.Gly51Asp
	ENST00000508895.5:c.152G>A	ENST00000508895.5:p.Gly51Asp
	ENST00000611107.1:c.122-5766G>A
	ENST00000618500.4:c.122-5766G>A
	ENST00000673718.1:c.152G>A	ENST00000673718.1:p.Gly51Asp
	ENST00000673902.1:c.152G>A	ENST00000673902.1:p.Gly51Asp
	ENST00000674129.1:c.152G>A	ENST00000674129.1:p.Gly51Asp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	2022-09-01	criteria provided, single submitter	Autosomal dominant Parkinson disease 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)	NA	CLINVAR		Detail
0.004	Shy-Drager Syndrome	α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's...	BeFree	23404372	Detail
0.024	multiple system atrophy	α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's...	BeFree	23404372	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000345.4(SNCA):c.152G>A (p.Gly51Asp) AND Autosomal dominant Parkinson disease 1	ClinVar	Detail
NA	DisGeNET	Detail
α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multipl...	DisGeNET	Detail
α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multipl...	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: rs431905511 dbSNP
Genome: hg19
Position: chr4:90,749,305-90,749,305
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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