chr11:61792609:G>A Detail (hg38) (TMEM258)

Information

Genome

Assembly Position
hg19 chr11:61,560,081-61,560,081 View the variant detail on this assembly version.
hg38 chr11:61,792,609-61,792,609

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000543510.1:c.-1159C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.369
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.540

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 617615 OMIM
HGNC 1164 HGNC
Ensembl ENSG00000134825 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv42759798 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 Squamous cell carcinoma of esophagus NEIL1 reference SNP 4462560 (rs4462560) and rs7402844, hOGG1 rs1052133 and rs293... BeFree 24022861 Detail
Annotation

Annotations

DescrptionSourceLinks
NEIL1 reference SNP 4462560 (rs4462560) and rs7402844, hOGG1 rs1052133 and rs293795, and FEN1 rs4246... 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
-
dbSNP
rs174538 dbSNP
Genome
hg38
Position
chr11:61,792,609-61,792,609
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs174538
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3694
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6190
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8592
East Asian Allele Counts (ExAC)
4638
East Asian Heterozygous Counts (ExAC)
1908
East Asian Homozygous Counts (ExAC)
1365
East Asian Allele Frequency (ExAC)
0.539804469273743
Chromosome Counts in All Race (ExAC)
120740
Allele Counts in All Race (ExAC)
38047
Heterozygous Counts in All Race (ExAC)
22253
Homozygous Counts in All Race (ExAC)
7897
Allele Frequency in All Race (ExAC)
0.31511512340566505
Genome browser