chr7:87550493:C>T Detail (hg38) (ABCB1)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_000927.4:c.1199G>A NP_000918.2:p.Ser400Asn
Ensemble ENST00000265724.8:c.1199G>A ENST00000265724.8:p.Ser400Asn
ENST00000543898.5:c.1007G>A ENST00000543898.5:p.Ser336Asn
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 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 tgv350599727 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2015-10-04 criteria provided, multiple submitters, no conflicts not specified germline unknown 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
0.003 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
NM_001348946.2(ABCB1):c.1199G>A (p.Ser400Asn) AND not specified ClinVar Detail
NM_001348946.2(ABCB1):c.1199G>A (p.Ser400Asn) AND ABCB1-related disorder ClinVar Detail
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
hg38
Position
chr7:87,550,493-87,550,493
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121310
Allele Counts in All Race (ExAC)
3520
Heterozygous Counts in All Race (ExAC)
3384
Homozygous Counts in All Race (ExAC)
68
Allele Frequency in All Race (ExAC)
0.029016569120435248
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