chr10:99844450:C>T 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>T ENST00000647814.1:p.Ile1324=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.217
ToMMo:0.225
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.242

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
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 tgv40387714 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2014-12-12 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2021-07-14 criteria provided, multiple submitters, no conflicts Dubin-Johnson syndrome germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely benign 2023-10-11 criteria provided, single submitter ABCC2-related disorder germline Detail
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
NM_000392.5(ABCC2):c.3972C>T (p.Ile1324=) AND not specified ClinVar Detail
NM_000392.5(ABCC2):c.3972C>T (p.Ile1324=) AND Dubin-Johnson syndrome ClinVar Detail
NM_000392.5(ABCC2):c.3972C>T (p.Ile1324=) AND not provided ClinVar Detail
NM_000392.5(ABCC2):c.3972C>T (p.Ile1324=) AND ABCC2-related disorder ClinVar Detail
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
-
dbSNP
rs3740066 dbSNP
Genome
hg38
Position
chr10:99,844,450-99,844,450
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1147
Mean of sample read depth (HGVD)
36.44
Standard deviation of sample read depth (HGVD)
22.35
Number of reference allele (HGVD)
1795
Number of alternative allele (HGVD)
497
Allele Frequency (HGVD)
0.2168411867364747
Gene Symbol (HGVD)
ABCC2
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))
rs3740066
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2251
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3773
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8628
East Asian Allele Counts (ExAC)
2090
East Asian Heterozygous Counts (ExAC)
1560
East Asian Homozygous Counts (ExAC)
265
East Asian Allele Frequency (ExAC)
0.24223458507185908
Chromosome Counts in All Race (ExAC)
121260
Allele Counts in All Race (ExAC)
41476
Heterozygous Counts in All Race (ExAC)
27001
Homozygous Counts in All Race (ExAC)
7237
Allele Frequency in All Race (ExAC)
0.3420418934520864
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