chr7:87550285:A>G Detail (hg38) (ABCB1)

Information

Genome

Assembly Position
hg19 chr7:87,179,601-87,179,601 View the variant detail on this assembly version.
hg38 chr7:87,550,285-87,550,285

HGVS

Type Transcript Protein
RefSeq NM_000927.4:c.1236T>C NP_000918.2:p.Gly412=
Ensemble ENST00000265724.8:c.1236T>C ENST00000265724.8:p.Gly412=
ENST00000543898.5:c.1044T>C ENST00000543898.5:p.Gly348=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.368
ToMMo:0.383
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.359

Prediction

ClinVar

Clinical Significance Benign Likely 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 tgv30007921 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2014-08-06 criteria provided, single submitter not specified germline Detail
Benign 2018-03-13 criteria provided, single submitter not provided germline Detail
drug response 2018-04-28 no assertion criteria provided somatic Detail
Likely benign 2021-07-21 criteria provided, single submitter ABCB1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.006 Malignant neoplasm of ovary CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically ... BeFree 21327421 Detail
0.004 Leukemia, Lymphocytic, Acute, L1 MDR1 C3435T and C1236T polymorphisms: association with high-risk childhood acute... BeFree 25854371 Detail
<0.001 Sickle Cell Dactylitis The risk for mucosal inflammation was increased in the presence of the G allele ... BeFree 19667267 Detail
0.007 familial Mediterranean fever Analysis of common MDR1 (ABCB1) gene C1236T and C3435T polymorphisms in Turkish ... BeFree 22194207 Detail
<0.001 sexual dysfunction This study measured functionally implicated ABCB1 variants (rs2235015, rs1128503... BeFree 23356581 Detail
0.006 leukopenia CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically ... BeFree 21327421 Detail
0.003 HIV Infections We investigated whether polymorphisms in MDR1 (T-129C, C1236T and C3435T) and PX... BeFree 23528223 Detail
0.006 Epithelial ovarian cancer Our study represents the largest analysis of ABCB1 SNPs and EOC progression and ... BeFree 23917080 Detail
<0.001 ovarian carcinoma CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically ... BeFree 21327421 Detail
<0.001 Palmar-plantar erythrodysesthesia syndrome The risk for mucosal inflammation was increased in the presence of the G allele ... BeFree 19667267 Detail
0.020 Myeloid Leukemia, Chronic Three ABCB1 SNPs (C1236T, G2677T, and C3435T) were genotyped in 100 Egyptian pat... BeFree 25301112 Detail
<0.001 leukopenia CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically ... BeFree 21327421 Detail
0.130 neutropenia CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically ... BeFree 21327421 Detail
0.007 familial Mediterranean fever Association analysis of three ABCB1 (MDR1) gene variants (C1236T, G2677A/T and C... BeFree 24773260 Detail
0.006 leukopenia In addition, a statistically significant association was found among neutropenia... BeFree 25007187 Detail
<0.001 neutropenia CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically ... BeFree 21327421 Detail
<0.001 organic sexual dysfunction This study measured functionally implicated ABCB1 variants (rs2235015, rs1128503... BeFree 23356581 Detail
<0.001 Sickle Cell Dactylitis The risk for mucosal inflammation was increased in the presence of the G allele ... BeFree 19667267 Detail
0.130 neutropenia In addition, a statistically significant association was found among neutropenia... BeFree 25007187 Detail
<0.001 Palmar-plantar erythrodysesthesia syndrome The risk for mucosal inflammation was increased in the presence of the G allele ... BeFree 19667267 Detail
0.083 HIV Infections Influence of MDR1 C1236T polymorphism on lopinavir plasma concentration and viro... BeFree 23528223 Detail
0.011 Hypertensive disease The CC genotype at ABCB1 C1236T was associated with it, but not significantly so... BeFree 20030680 Detail
0.194 epilepsy Association between ABCB1-T1236C polymorphism and drug-resistant epilepsy in Ira... BeFree 21079659 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=) AND not specified ClinVar Detail
NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=) AND not provided ClinVar Detail
NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=) AND Tramadol response ClinVar Detail
NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=) AND ABCB1-related disorder ClinVar Detail
CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically significantly correl... DisGeNET Detail
MDR1 C3435T and C1236T polymorphisms: association with high-risk childhood acute lymphoblastic leuke... DisGeNET Detail
The risk for mucosal inflammation was increased in the presence of the G allele in CYP1A1 2455A/G (O... DisGeNET Detail
Analysis of common MDR1 (ABCB1) gene C1236T and C3435T polymorphisms in Turkish patients with famili... DisGeNET Detail
This study measured functionally implicated ABCB1 variants (rs2235015, rs1128503, rs2032582, and rs1... DisGeNET Detail
CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically significantly correl... DisGeNET Detail
We investigated whether polymorphisms in MDR1 (T-129C, C1236T and C3435T) and PXR (C63396T) affect l... DisGeNET Detail
Our study represents the largest analysis of ABCB1 SNPs and EOC progression and survival to date, bu... DisGeNET Detail
CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically significantly correl... DisGeNET Detail
The risk for mucosal inflammation was increased in the presence of the G allele in CYP1A1 2455A/G (O... DisGeNET Detail
Three ABCB1 SNPs (C1236T, G2677T, and C3435T) were genotyped in 100 Egyptian patients with CML under... DisGeNET Detail
CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically significantly correl... DisGeNET Detail
CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically significantly correl... DisGeNET Detail
Association analysis of three ABCB1 (MDR1) gene variants (C1236T, G2677A/T and C3435T) and their gen... DisGeNET Detail
In addition, a statistically significant association was found among neutropenia (absolute neutrophi... DisGeNET Detail
CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically significantly correl... DisGeNET Detail
This study measured functionally implicated ABCB1 variants (rs2235015, rs1128503, rs2032582, and rs1... DisGeNET Detail
The risk for mucosal inflammation was increased in the presence of the G allele in CYP1A1 2455A/G (O... DisGeNET Detail
In addition, a statistically significant association was found among neutropenia (absolute neutrophi... DisGeNET Detail
The risk for mucosal inflammation was increased in the presence of the G allele in CYP1A1 2455A/G (O... DisGeNET Detail
Influence of MDR1 C1236T polymorphism on lopinavir plasma concentration and virological response in ... DisGeNET Detail
The CC genotype at ABCB1 C1236T was associated with it, but not significantly so (p = 0.07), adjuste... DisGeNET Detail
Association between ABCB1-T1236C polymorphism and drug-resistant epilepsy in Iranian female patients... 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
rs1128503 dbSNP
Genome
hg38
Position
chr7:87,550,285-87,550,285
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1202
Mean of sample read depth (HGVD)
54.13
Standard deviation of sample read depth (HGVD)
28.14
Number of reference allele (HGVD)
1519
Number of alternative allele (HGVD)
884
Allele Frequency (HGVD)
0.36787349146899706
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))
rs1128503
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3829
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6416
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8622
East Asian Allele Counts (ExAC)
3095
East Asian Heterozygous Counts (ExAC)
1987
East Asian Homozygous Counts (ExAC)
554
East Asian Allele Frequency (ExAC)
0.35896543725353747
Chromosome Counts in All Race (ExAC)
121266
Allele Counts in All Race (ExAC)
65715
Heterozygous Counts in All Race (ExAC)
28561
Homozygous Counts in All Race (ExAC)
18577
Allele Frequency in All Race (ExAC)
0.5419078719509178
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