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
Links
Type Database ID Link
Gene MIM 138440 OMIM
HGNC 4163 HGNC
Ensembl ENSG00000159131 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv64891875 TogoVar
COSMIC
MONDO
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

DescrptionSourceLinks
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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