chr2:27328100:A>G Detail (hg38) (GTF3C2)

Information

Genome

Assembly Position
hg19 chr2:27,550,967-27,550,967 View the variant detail on this assembly version.
hg38 chr2:27,328,100-27,328,100

HGVS

Type Transcript Protein
RefSeq NM_001035521.2:c.2346T>C NP_001030598.1:p.Pro782=
NM_001521.3:c.2346T>C NP_001512.1:p.Pro782=
NM_001318909.1:c.2346T>C NP_001305838.1:p.Pro782=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.112
ToMMo:0.128
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.156

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 604883 OMIM
HGNC 4665 HGNC
Ensembl ENSG00000115207 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv6242176 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
0.006 Diabetes Mellitus, Non-Insulin-Dependent In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyp... BeFree 21411509 Detail
0.012 Kidney Diseases In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyp... BeFree 21411509 Detail
Annotation

Annotations

DescrptionSourceLinks
In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyped six single nucleo... DisGeNET Detail
In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyped six single nucleo... 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
chr2:27,328,100-27,328,100
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1159
Mean of sample read depth (HGVD)
39.42
Standard deviation of sample read depth (HGVD)
18.76
Number of reference allele (HGVD)
2058
Number of alternative allele (HGVD)
260
Allele Frequency (HGVD)
0.11216566005176877
Gene Symbol (HGVD)
GTF3C2
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))
rs1049817
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1284
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2152
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)
1347
East Asian Heterozygous Counts (ExAC)
1155
East Asian Homozygous Counts (ExAC)
96
East Asian Allele Frequency (ExAC)
0.15572254335260116
Chromosome Counts in All Race (ExAC)
121326
Allele Counts in All Race (ExAC)
51149
Heterozygous Counts in All Race (ExAC)
27443
Homozygous Counts in All Race (ExAC)
11853
Allele Frequency in All Race (ExAC)
0.42158317260933353
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