chr4:89822239:G>A Detail (hg38) (SNCA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:90,743,390-90,743,390 View the variant detail on this assembly version. |
| hg38 | chr4:89,822,239-89,822,239 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001146055.1:c.306+7C>T | |
| NM_000345.3:c.306+7C>T | ||
| NM_001146054.1:c.306+7C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2021-01-02 | criteria provided, single submitter | Autosomal dominant Parkinson disease 1,Lewy body dementia |
germline
|
Detail |
|
Likely benign
|
2021-01-02 | criteria provided, single submitter | Autosomal dominant Parkinson disease 1,Lewy body dementia |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000345.4(SNCA):c.306+7C>T AND multiple conditions | ClinVar | Detail |
| NM_000345.4(SNCA):c.306+7C>T AND multiple conditions | ClinVar | 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
- rs2110460139 dbSNP
- Genome
- hg38
- Position
- chr4:89,822,239-89,822,239
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser