chr7:87179809:C>A Detail (hg19) (ABCB1)

Information

Genome

Assembly Position
hg19 chr7:87,179,809-87,179,809
hg38 chr7:87,550,493-87,550,493 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000927.4:c.1199G>T NP_000918.2:p.Ser400Ile
Ensemble ENST00000265724.8:c.1199G>T ENST00000265724.8:p.Ser400Ile
ENST00000543898.5:c.1007G>T ENST00000543898.5:p.Ser336Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
0.003 kidney failure The purpose of this study is to compare the genotype frequency of C3435T and G11... BeFree 17376299 Detail
0.030 Malignant neoplasm of ovary ABCB1 G1199A polymorphism and ovarian cancer response to paclitaxel. BeFree 17828752 Detail
0.015 ovarian carcinoma ABCB1 G1199A polymorphism and ovarian cancer response to paclitaxel. BeFree 17828752 Detail
Annotation

Annotations

DescrptionSourceLinks
The purpose of this study is to compare the genotype frequency of C3435T and G1199A polymorphisms in... DisGeNET Detail
ABCB1 G1199A polymorphism and ovarian cancer response to paclitaxel. DisGeNET Detail
ABCB1 G1199A polymorphism and ovarian cancer response to paclitaxel. 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
rs2229109 dbSNP
Genome
hg19
Position
chr7:87,179,809-87,179,809
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser