chr15:75355623:G>C Detail (hg38) (NEIL1)

Information

Genome

Assembly Position
hg19 chr15:75,647,964-75,647,964 View the variant detail on this assembly version.
hg38 chr15:75,355,623-75,355,623

HGVS

Type Transcript Protein
RefSeq NM_024608.3:c.*589G>C
Ensemble ENST00000355059.9:c.*589G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.491
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 608844 OMIM
HGNC 18448 HGNC
Ensembl ENSG00000140398 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53566171 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
0.005 squamous cell carcinoma Genotype and haplotypes of the NEIL1 NT_010194.16:g.46434077G>T (rs7182283) a... BeFree 18594018 Detail
0.005 squamous cell carcinoma Genotype and haplotypes of the NEIL1 NT_010194.16:g.46434077G>T (rs7182283) a... BeFree 18594018 Detail
0.001 Squamous cell carcinoma of esophagus NEIL1 reference SNP 4462560 (rs4462560) and rs7402844, hOGG1 rs1052133 and rs293... BeFree 24022861 Detail
Annotation

Annotations

DescrptionSourceLinks
Genotype and haplotypes of the NEIL1 NT_010194.16:g.46434077G>T (rs7182283) and g.46438282C>G ... DisGeNET Detail
Genotype and haplotypes of the NEIL1 NT_010194.16:g.46434077G>T (rs7182283) and g.46438282C>G ... DisGeNET Detail
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
rs4462560 dbSNP
Genome
hg38
Position
chr15:75,355,623-75,355,623
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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))
rs4462560
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4908
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8226
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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