chr4:89828156:A>C Detail (hg38) (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	chr4:90,749,307-90,749,307 View the variant detail on this assembly version.
hg38	chr4:89,828,156-89,828,156

HGVS

SNCA

Type	Transcript	Protein
RefSeq	NM_001146055.1:c.150T>G	NP_001139527.1:p.His50Gln
	NM_000345.3:c.150T>G	NP_000336.1:p.His50Gln
	NM_001146054.1:c.150T>G	NP_001139526.1:p.His50Gln
	NM_007308.2:c.150T>G	NP_009292.1:p.His50Gln
Ensemble	ENST00000336904.7:c.150T>G	ENST00000336904.7:p.His50Gln
	ENST00000345009.8:c.150T>G	ENST00000345009.8:p.His50Gln
	ENST00000394986.5:c.150T>G	ENST00000394986.5:p.His50Gln
	ENST00000394989.6:c.122-5768T>G
	ENST00000394991.8:c.150T>G	ENST00000394991.8:p.His50Gln
	ENST00000420646.6:c.150T>G	ENST00000420646.6:p.His50Gln
	ENST00000502987.5:c.150T>G	ENST00000502987.5:p.His50Gln
	ENST00000505199.5:c.122-5768T>G
	ENST00000506244.5:c.150T>G	ENST00000506244.5:p.His50Gln
	ENST00000508895.5:c.150T>G	ENST00000508895.5:p.His50Gln
	ENST00000611107.1:c.122-5768T>G
	ENST00000618500.4:c.122-5768T>G
	ENST00000673718.1:c.150T>G	ENST00000673718.1:p.His50Gln
	ENST00000673902.1:c.150T>G	ENST00000673902.1:p.His50Gln
	ENST00000674129.1:c.150T>G	ENST00000674129.1:p.His50Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Uncertain significance
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	2014-08-08	no assertion criteria provided	Autosomal dominant Parkinson disease 1	germline	Detail
Uncertain significance	2016-07-24	criteria provided, single submitter	Parkinson Disease, Dominant	germline	Detail
Uncertain significance	2023-11-25	criteria provided, single submitter	Lewy body dementia,Autosomal dominant Parkinson disease 1	germline	Detail
Uncertain significance	2023-11-25	criteria provided, single submitter	Lewy body dementia,Autosomal dominant Parkinson disease 1	germline	Detail
Uncertain significance	2023-03-23	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2021-12-06	criteria provided, single submitter	Autosomal dominant Parkinson disease 1,Lewy body dementia,Autosomal dominant Parkinson disease 4	unknown	Detail
Uncertain significance	2021-12-06	criteria provided, single submitter	Autosomal dominant Parkinson disease 1,Lewy body dementia,Autosomal dominant Parkinson disease 4	unknown	Detail
Uncertain significance	2021-12-06	criteria provided, single submitter	Autosomal dominant Parkinson disease 1,Lewy body dementia,Autosomal dominant Parkinson disease 4	unknown	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	Presenile dementia	Here, we describe a novel missense mutation in exon 4 of SNCA encoding a H50Q su...	BeFree	23457019	Detail
0.033	dementia	Here, we describe a novel missense mutation in exon 4 of SNCA encoding a H50Q su...	BeFree	23457019	Detail
0.138	Parkinsonian Disorders	Here, we describe a novel missense mutation in exon 4 of SNCA encoding a H50Q su...	BeFree	23457019	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000345.4(SNCA):c.150T>G (p.His50Gln) AND Autosomal dominant Parkinson disease 1	ClinVar	Detail
NM_000345.4(SNCA):c.150T>G (p.His50Gln) AND Parkinson Disease, Dominant	ClinVar	Detail
NM_000345.4(SNCA):c.150T>G (p.His50Gln) AND multiple conditions	ClinVar	Detail
NM_000345.4(SNCA):c.150T>G (p.His50Gln) AND multiple conditions	ClinVar	Detail
NM_000345.4(SNCA):c.150T>G (p.His50Gln) AND not provided	ClinVar	Detail
NM_000345.4(SNCA):c.150T>G (p.His50Gln) AND multiple conditions	ClinVar	Detail
NM_000345.4(SNCA):c.150T>G (p.His50Gln) AND multiple conditions	ClinVar	Detail
NM_000345.4(SNCA):c.150T>G (p.His50Gln) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
Here, we describe a novel missense mutation in exon 4 of SNCA encoding a H50Q substitution in a pati...	DisGeNET	Detail
Here, we describe a novel missense mutation in exon 4 of SNCA encoding a H50Q substitution in a pati...	DisGeNET	Detail
Here, we describe a novel missense mutation in exon 4 of SNCA encoding a H50Q substitution in a pati...	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: rs201106962 dbSNP
Genome: hg38
Position: chr4:89,828,156-89,828,156
Variant Type: snv
Reference Allele: A
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8652
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121306
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.2974461279738845E-5

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