chr7:87536484:C>A Detail (hg38) (ABCB1)

Information

Genome

Assembly Position
hg19 chr7:87,165,800-87,165,800 View the variant detail on this assembly version.
hg38 chr7:87,536,484-87,536,484

HGVS

Type Transcript Protein
RefSeq NM_000927.4:c.2455G>T NP_000918.2:p.Ala819Ser
Ensemble ENST00000265724.8:c.2455G>T ENST00000265724.8:p.Ala819Ser
ENST00000543898.5:c.2263G>T ENST00000543898.5:p.Ala755Ser
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 171050 OMIM
HGNC 40 HGNC
Ensembl ENSG00000085563 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
<0.001 Sickle Cell Dactylitis The risk for mucosal inflammation was increased in the presence of the G allele ... BeFree 19667267 Detail
<0.001 Palmar-plantar erythrodysesthesia syndrome The risk for mucosal inflammation was increased in the presence of the G allele ... BeFree 19667267 Detail
<0.001 Sickle Cell Dactylitis The risk for mucosal inflammation was increased in the presence of the G allele ... BeFree 19667267 Detail
<0.001 Palmar-plantar erythrodysesthesia syndrome The risk for mucosal inflammation was increased in the presence of the G allele ... BeFree 19667267 Detail
Annotation

Annotations

DescrptionSourceLinks
The risk for mucosal inflammation was increased in the presence of the G allele in CYP1A1 2455A/G (O... DisGeNET Detail
The risk for mucosal inflammation was increased in the presence of the G allele in CYP1A1 2455A/G (O... DisGeNET Detail
The risk for mucosal inflammation was increased in the presence of the G allele in CYP1A1 2455A/G (O... DisGeNET Detail
The risk for mucosal inflammation was increased in the presence of the G allele in CYP1A1 2455A/G (O... 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
chr7:87,536,484-87,536,484
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3142791020597085E-4
Chromosome Counts in All Race (ExAC)
121220
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.649892756970797E-5
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