chr3:9757758:T>G Detail (hg38) (OGG1, CAMK1)

Information

Genome

Assembly Position
hg19 chr3:9,799,442-9,799,442 View the variant detail on this assembly version.
hg38 chr3:9,757,758-9,757,758

HGVS

Type Transcript Protein
RefSeq NM_003656.4:c.1001A>C NP_003647.1:p.His334Pro
Ensemble ENST00000256460.8:c.1001A>C ENST00000256460.8:p.His334Pro
Type Transcript Protein
RefSeq NM_016828.2:c.948+942T>G
NM_016821.2:c.948+942T>G
NM_016829.2:c.948+942T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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 tgv316364655 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 tgv316364655 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 xeroderma pigmentosum In an effort to understand the severity of XP-C phenotypes, we also demonstrated... BeFree 18809580 Detail
0.021 xeroderma pigmentosum In an effort to understand the severity of XP-C phenotypes, we also demonstrated... BeFree 18809580 Detail
Annotation

Annotations

DescrptionSourceLinks
In an effort to understand the severity of XP-C phenotypes, we also demonstrated that single mutatio... DisGeNET Detail
In an effort to understand the severity of XP-C phenotypes, we also demonstrated that single mutatio... 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
chr3:9,757,758-9,757,758
Variant Type
snv
Reference Allele
T
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8624
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120318
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.311308366163002E-6
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