chr4:90749321: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	chr4:90,749,321-90,749,321
hg38	chr4:89,828,170-89,828,170 View the variant detail on this assembly version.

HGVS

SNCA

Type	Transcript	Protein
RefSeq	NM_001146055.1:c.136G>A	NP_001139527.1:p.Glu46Lys
	NM_000345.3:c.136G>A	NP_000336.1:p.Glu46Lys
	NM_001146054.1:c.136G>A	NP_001139526.1:p.Glu46Lys
	NM_007308.2:c.136G>A	NP_009292.1:p.Glu46Lys
Ensemble	ENST00000336904.7:c.136G>A	ENST00000336904.7:p.Glu46Lys
	ENST00000345009.8:c.136G>A	ENST00000345009.8:p.Glu46Lys
	ENST00000394986.5:c.136G>A	ENST00000394986.5:p.Glu46Lys
	ENST00000394989.6:c.122-5782G>A
	ENST00000394991.8:c.136G>A	ENST00000394991.8:p.Glu46Lys
	ENST00000420646.6:c.136G>A	ENST00000420646.6:p.Glu46Lys
	ENST00000502987.5:c.136G>A	ENST00000502987.5:p.Glu46Lys
	ENST00000505199.5:c.122-5782G>A
	ENST00000506244.5:c.136G>A	ENST00000506244.5:p.Glu46Lys
	ENST00000508895.5:c.136G>A	ENST00000508895.5:p.Glu46Lys
	ENST00000611107.1:c.122-5782G>A
	ENST00000618500.4:c.122-5782G>A
	ENST00000673718.1:c.136G>A	ENST00000673718.1:p.Glu46Lys
	ENST00000673902.1:c.136G>A	ENST00000673902.1:p.Glu46Lys
	ENST00000674129.1:c.136G>A	ENST00000674129.1:p.Glu46Lys

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	2005-03-04	no assertion criteria provided	Lewy body dementia	germline	Detail
Pathogenic	2023-08-04	criteria provided, single submitter	Lewy body dementia,Autosomal dominant Parkinson disease 1	germline	Detail
Pathogenic	2023-08-04	criteria provided, single submitter	Lewy body dementia,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
0.138	Parkinsonian Disorders	We examined 7 patients from a family harboring a novel mutation in the alpha-syn...	BeFree	16001411	Detail
0.386	Lewy Body Disease	NA	CLINVAR		Detail
0.386	Lewy Body Disease	We examined 7 patients from a family harboring a novel mutation in the alpha-syn...	BeFree	16001411	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000345.4(SNCA):c.136G>A (p.Glu46Lys) AND Lewy body dementia	ClinVar	Detail
NM_000345.4(SNCA):c.136G>A (p.Glu46Lys) AND multiple conditions	ClinVar	Detail
NM_000345.4(SNCA):c.136G>A (p.Glu46Lys) AND multiple conditions	ClinVar	Detail
Autosomal dominant Parkinson disease (PD) is caused by duplication or triplication of the alpha-synu...	DisGeNET	Detail
We examined 7 patients from a family harboring a novel mutation in the alpha-synuclein gene (E46K) t...	DisGeNET	Detail
NA	DisGeNET	Detail
We examined 7 patients from a family harboring a novel mutation in the alpha-synuclein gene (E46K) t...	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: rs104893875 dbSNP
Genome: hg19
Position: chr4:90,749,321-90,749,321
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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