chr10:99844450:C>G Detail (hg38) (ABCC2)

Information

Genome

Assembly Position
hg19 chr10:101,604,207-101,604,207 View the variant detail on this assembly version.
hg38 chr10:99,844,450-99,844,450

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000647814.1:c.3972C>G ENST00000647814.1:p.Ile1324Met
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 601107 OMIM
HGNC 53 HGNC
Ensembl ENSG00000023839 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant 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
0.009 epilepsy ABCC2 rs2273697 and rs3740066 polymorphisms and resistance to antiepileptic drug... BeFree 24624913 Detail
Annotation

Annotations

DescrptionSourceLinks
ABCC2 rs2273697 and rs3740066 polymorphisms and resistance to antiepileptic drugs in Asia Pacific ep... 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
chr10:99,844,450-99,844,450
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8628
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)
121260
Allele Counts in All Race (ExAC)
6
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.948045522018802E-5
Genome browser