chr9:104819690:G>T Detail (hg38) (ABCA1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:107,581,971-107,581,971 View the variant detail on this assembly version. |
| hg38 | chr9:104,819,690-104,819,690 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005502.3:c.3137C>A | NP_005493.2:p.Ala1046Asp |
| Ensemble | ENST00000374736.8:c.3137C>A | ENST00000374736.8:p.Ala1046Asp |
| ENST00000678995.1:c.3137C>A | ENST00000678995.1:p.Ala1046Asp |
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 | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.599 | Tangier disease | With these new sequencing primers, we found 3 novel ABCA1 mutations: a frameshif... | BeFree | 10938021 | Detail |
| 0.366 | Hypoalphalipoproteinemia, Familial | With these new sequencing primers, we found 3 novel ABCA1 mutations: a frameshif... | BeFree | 10938021 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| With these new sequencing primers, we found 3 novel ABCA1 mutations: a frameshift mutation (4570insA... | DisGeNET | Detail |
| With these new sequencing primers, we found 3 novel ABCA1 mutations: a frameshift mutation (4570insA... | 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
- -
- Genome
- hg38
- Position
- chr9:104,819,690-104,819,690
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- 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)
- 121400
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.237232289950576E-6
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