chr11:58478159:C>T Detail (hg19) (GLYAT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:58,478,159-58,478,159 |
| hg38 | chr11:58,710,686-58,710,686 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005838.3:c.392G>A | NP_005829.3:p.Arg131His |
| NM_201648.2:c.392G>A | NP_964011.2:p.Arg131His | |
| Ensemble | ENST00000278400.3:c.392G>A | ENST00000278400.3:p.Arg131His |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.017 |
| ToMMo:0.017 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.024 |
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
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Mutations of the IDH1 gene are frequent in gliomas, with R132H (CGT-->CAT) being the most common ... | DisGeNET | Detail |
| Mutations of the IDH1 gene are frequent in gliomas, with R132H (CGT-->CAT) being the most common ... | 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
- hg19
- Position
- chr11:58,478,159-58,478,159
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 130.09
- Standard deviation of sample read depth (HGVD)
- 54.70
- Number of reference allele (HGVD)
- 2379
- Number of alternative allele (HGVD)
- 41
- Allele Frequency (HGVD)
- 0.016942148760330577
- Gene Symbol (HGVD)
- GLYAT
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs117149346
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0172
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 289
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8650
- East Asian Allele Counts (ExAC)
- 210
- East Asian Heterozygous Counts (ExAC)
- 204
- East Asian Homozygous Counts (ExAC)
- 3
- East Asian Allele Frequency (ExAC)
- 0.024277456647398842
- Chromosome Counts in All Race (ExAC)
- 121328
- Allele Counts in All Race (ExAC)
- 219
- Heterozygous Counts in All Race (ExAC)
- 213
- Homozygous Counts in All Race (ExAC)
- 3
- Allele Frequency in All Race (ExAC)
- 0.001805024396676777
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