chr3:9799113:A>G Detail (hg19) (OGG1, CAMK1)

Information

Genome

Assembly Position
hg19 chr3:9,799,113-9,799,113
hg38 chr3:9,757,429-9,757,429 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003656.4:c.*110T>C
Ensemble ENST00000256460.8:c.*110T>C
Type Transcript Protein
RefSeq NM_016828.2:c.948+613A>G
NM_016821.2:c.948+613A>G
NM_016829.2:c.948+613A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.057
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 604998 OMIM
HGNC 1459 HGNC
Ensembl ENSG00000134072 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv11422692 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 601982 OMIM
HGNC 8125 HGNC
Ensembl ENSG00000114026 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv11422692 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 Neuroectodermal Tumor, Primitive However, after correcting for multiple comparisons, only the interaction between... BeFree 22389292 Detail
<0.001 Ewings sarcoma-primitive neuroectodermal tumor (PNET) However, after correcting for multiple comparisons, only the interaction between... BeFree 22389292 Detail
<0.001 extraosseous Ewings sarcoma-primitive neuroepithelial tumor However, after correcting for multiple comparisons, only the interaction between... BeFree 22389292 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
However, after correcting for multiple comparisons, only the interaction between high trichloroethyl... DisGeNET Detail
However, after correcting for multiple comparisons, only the interaction between high trichloroethyl... DisGeNET Detail
However, after correcting for multiple comparisons, only the interaction between high trichloroethyl... 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
rs293795 dbSNP
Genome
hg19
Position
chr3:9,799,113-9,799,113
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs293795
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0569
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
953
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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