chr7:87570248:C>A Detail (hg38) (ABCB1)

Information

Genome

Assembly Position
hg19 chr7:87,199,564-87,199,564 View the variant detail on this assembly version.
hg38 chr7:87,570,248-87,570,248

HGVS

Type Transcript Protein
RefSeq NM_000927.4:c.287-25G>T
Ensemble ENST00000265724.8:c.287-25G>T
ENST00000543898.5:c.287-25G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.056
ToMMo:0.056
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.055

Prediction

ClinVar

Clinical Significance Benign
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 tgv30008544 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-03-14 criteria provided, single submitter not provided germline Detail
drug response 2018-04-28 no assertion criteria provided somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 sexual dysfunction This study measured functionally implicated ABCB1 variants (rs2235015, rs1128503... BeFree 23356581 Detail
<0.001 organic sexual dysfunction This study measured functionally implicated ABCB1 variants (rs2235015, rs1128503... BeFree 23356581 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001348946.2(ABCB1):c.287-25G>T AND not provided ClinVar Detail
NM_001348946.2(ABCB1):c.287-25G>T AND Tramadol response ClinVar Detail
This study measured functionally implicated ABCB1 variants (rs2235015, rs1128503, rs2032582, and rs1... DisGeNET Detail
This study measured functionally implicated ABCB1 variants (rs2235015, rs1128503, rs2032582, and rs1... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2235015 dbSNP
Genome
hg38
Position
chr7:87,570,248-87,570,248
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
837
Mean of sample read depth (HGVD)
208.02
Standard deviation of sample read depth (HGVD)
95.34
Number of reference allele (HGVD)
1581
Number of alternative allele (HGVD)
93
Allele Frequency (HGVD)
0.05555555555555555
Gene Symbol (HGVD)
ABCB1
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))
rs2235015
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0564
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
945
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
473
East Asian Heterozygous Counts (ExAC)
421
East Asian Homozygous Counts (ExAC)
26
East Asian Allele Frequency (ExAC)
0.05469472710453284
Chromosome Counts in All Race (ExAC)
121292
Allele Counts in All Race (ExAC)
21991
Heterozygous Counts in All Race (ExAC)
17311
Homozygous Counts in All Race (ExAC)
2340
Allele Frequency in All Race (ExAC)
0.1813062691686179
Genome browser