chr21:34883618:T>C Detail (hg19) (GART)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr21:34,883,618-34,883,618 |
hg38 | chr21:33,511,311-33,511,311 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000819.4:c.2255A>G | NP_000810.1:p.Asp752Gly |
NM_001136005.1:c.2255A>G | NP_001129477.1:p.Asp752Gly | |
NM_001136006.1:c.2255A>G | NP_001129478.1:p.Asp752Gly |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.153 |
ToMMo:0.139 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.144 |
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 |
---|---|---|---|---|---|
<0.001 | liver carcinoma | Results showed that six SNPs (MTHFR rs1801133, MTRR rs2287780, MTRR rs10380, FTH... | BeFree | 25318605 | Detail |
<0.001 | liver carcinoma | Results showed that six SNPs (MTHFR rs1801133, MTRR rs2287780, MTRR rs10380, FTH... | BeFree | 25318605 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Results showed that six SNPs (MTHFR rs1801133, MTRR rs2287780, MTRR rs10380, FTHFD rs1127717, GART r... | DisGeNET | Detail |
Results showed that six SNPs (MTHFR rs1801133, MTRR rs2287780, MTRR rs10380, FTHFD rs1127717, GART r... | 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
- chr21:34,883,618-34,883,618
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1208
- Mean of sample read depth (HGVD)
- 167.92
- Standard deviation of sample read depth (HGVD)
- 78.73
- Number of reference allele (HGVD)
- 2046
- Number of alternative allele (HGVD)
- 370
- Allele Frequency (HGVD)
- 0.15314569536423842
- Gene Symbol (HGVD)
- GART
- 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))
- rs8971
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1391
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2331
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8650
- East Asian Allele Counts (ExAC)
- 1246
- East Asian Heterozygous Counts (ExAC)
- 1076
- East Asian Homozygous Counts (ExAC)
- 85
- East Asian Allele Frequency (ExAC)
- 0.14404624277456649
- Chromosome Counts in All Race (ExAC)
- 121402
- Allele Counts in All Race (ExAC)
- 25413
- Heterozygous Counts in All Race (ExAC)
- 19461
- Homozygous Counts in All Race (ExAC)
- 2976
- Allele Frequency in All Race (ExAC)
- 0.2093293355957892
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