chr2:21225753:C>A Detail (hg19) (APOB)

Information

Genome

Assembly Position
hg19 chr2:21,225,753-21,225,753
hg38 chr2:21,002,881-21,002,881 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000384.2:c.12541G>T NP_000375.2:p.Glu4181Ter
Ensemble ENST00000233242.5:c.12541G>T ENST00000233242.5:p.Glu4181Ter
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 Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 107730 OMIM
HGNC 603 HGNC
Ensembl ENSG00000084674 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
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2022-10-09 criteria provided, single submitter familial hypobetalipoproteinemia 1,Hypercholesterolemia, autosomal dominant, type B germline Detail
Uncertain significance 2022-10-09 criteria provided, single submitter familial hypobetalipoproteinemia 1,Hypercholesterolemia, autosomal dominant, type B germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.086 coronary artery disease Two SNPs in the Apolipoprotein B (Apo B) gene [rs1042031 and rs1800479], one in ... BeFree 25134189 Detail
0.059 coronary artery disease Two SNPs in the Apolipoprotein B (Apo B) gene [rs1042031 and rs1800479], one in ... BeFree 25134189 Detail
<0.001 Calcific stenosis It is possible to conclude that apoB (XbaI, rs1042031, and rs6725189), ACE (rs43... BeFree 24903972 Detail
0.006 Carotid Atherosclerosis The present study was designed to investigate the association of polymorphisms X... BeFree 24797048 Detail
<0.001 breast carcinoma Associations of polymorphisms of rs693 and rs1042031 in apolipoprotein B gene wi... BeFree 23444115 Detail
0.038 Diabetes Mellitus, Non-Insulin-Dependent Polymorphisms XbaI (rs693) and EcoRI (rs1042031) of the ApoB gene are associated... BeFree 24797048 Detail
<0.001 Malignant neoplasm of breast Associations of polymorphisms of rs693 and rs1042031 in apolipoprotein B gene wi... BeFree 23444115 Detail
<0.001 Hashimoto Disease We analyzed the associations of seven polymorphisms of genes involved in lipid m... BeFree 25587205 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000384.3(APOB):c.12541G>T (p.Glu4181Ter) AND multiple conditions ClinVar Detail
NM_000384.3(APOB):c.12541G>T (p.Glu4181Ter) AND multiple conditions ClinVar Detail
Two SNPs in the Apolipoprotein B (Apo B) gene [rs1042031 and rs1800479], one in the Cholesterol Este... DisGeNET Detail
Two SNPs in the Apolipoprotein B (Apo B) gene [rs1042031 and rs1800479], one in the Cholesterol Este... DisGeNET Detail
It is possible to conclude that apoB (XbaI, rs1042031, and rs6725189), ACE (rs4340), IL10 (rs1800896... DisGeNET Detail
The present study was designed to investigate the association of polymorphisms XbaI (rs693) and EcoR... DisGeNET Detail
Associations of polymorphisms of rs693 and rs1042031 in apolipoprotein B gene with risk of breast ca... DisGeNET Detail
Polymorphisms XbaI (rs693) and EcoRI (rs1042031) of the ApoB gene are associated with carotid plaque... DisGeNET Detail
Associations of polymorphisms of rs693 and rs1042031 in apolipoprotein B gene with risk of breast ca... DisGeNET Detail
We analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3... 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
rs1042031 dbSNP
Genome
hg19
Position
chr2:21,225,753-21,225,753
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8642
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)
120878
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.272803984182399E-6
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