chr15:65003238:G>T Detail (hg38) (MTFMT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:65,295,576-65,295,576 View the variant detail on this assembly version. |
| hg38 | chr15:65,003,238-65,003,238 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_139242.3:c.994C>A | NP_640335.2:p.Arg332= |
| Ensemble | ENST00000220058.9:c.994C>A | ENST00000220058.9:p.Arg332= |
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 |
|---|---|---|---|---|---|
| 0.360 | combined oxidative phosphorylation deficiency 15 | NA | CLINVAR | Detail | |
| 0.120 | Leigh syndrome due to mitochondrial complex I deficiency | NA | CLINVAR | Detail |
Annotation
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
- chr15:65,003,238-65,003,238
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 7712
- 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)
- 107528
- 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)
- 9.299903281005878E-6
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