chr4:89828170:C>T Detail (hg38) (SNCA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:90,749,321-90,749,321 View the variant detail on this assembly version. |
hg38 | chr4:89,828,170-89,828,170 |
HGVS
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 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2005-03-04 | no assertion criteria provided | Lewy body dementia |
![]() |
Detail |
![]() |
2023-08-04 | criteria provided, single submitter | Lewy body dementia,Autosomal dominant Parkinson disease 1 |
![]() |
Detail |
![]() |
2023-08-04 | criteria provided, single submitter | Lewy body dementia,Autosomal dominant Parkinson disease 1 |
![]() |
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
- hg38
- Position
- chr4:89,828,170-89,828,170
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser