chr4:90749307:A>C Detail (hg19) (SNCA)

Information

Genome

Assembly Position
hg19 chr4:90,749,307-90,749,307
hg38 chr4:89,828,156-89,828,156 View the variant detail on this assembly version.

HGVS

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
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
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

DescrptionSourceLinks
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
hg19
Position
chr4:90,749,307-90,749,307
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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