chr7:87600877:A>G Detail (hg38) (ABCB1)

Information

Genome

Assembly Position
hg19 chr7:87,230,193-87,230,193 View the variant detail on this assembly version.
hg38 chr7:87,600,877-87,600,877

HGVS

Type Transcript Protein
RefSeq NM_000927.4:c.-129T>C
Ensemble ENST00000265724.8:c.-129T>C
ENST00000543898.5:c.-129T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.075
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance drug response
Review star
Show details
Links
Type Database ID Link
Gene MIM 171050 OMIM
HGNC 40 HGNC
Ensembl ENSG00000085563 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv30009198 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
drug response 2018-04-28 no assertion criteria provided somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 HIV Infections We investigated whether polymorphisms in MDR1 (T-129C, C1236T and C3435T) and PX... BeFree 23528223 Detail
0.015 adenocarcinoma MDR1 T-129C polymorphism can be predictive of differentiation, and thereby progn... BeFree 16819187 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001348946.2(ABCB1):c.-129T>C AND Tramadol response ClinVar Detail
We investigated whether polymorphisms in MDR1 (T-129C, C1236T and C3435T) and PXR (C63396T) affect l... DisGeNET Detail
MDR1 T-129C polymorphism can be predictive of differentiation, and thereby prognosis of colorectal a... 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
rs3213619 dbSNP
Genome
hg38
Position
chr7:87,600,877-87,600,877
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))
rs3213619
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0745
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1248
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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