chr2:44099433:C>T Detail (hg19) (ABCG8)

Information

Genome

Assembly Position
hg19 chr2:44,099,433-44,099,433
hg38 chr2:43,872,294-43,872,294 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_022437.2:c.1199C>T NP_071882.1:p.Thr400Met
Ensemble ENST00000272286.4:c.1199C>T ENST00000272286.4:p.Thr400Met
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 605460 OMIM
HGNC 13887 HGNC
Ensembl ENSG00000143921 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 2023-07-19 criteria provided, single submitter Sitosterolemia 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Cholesterol gallstones Studies have identified single nucleotide polymorphisms (SNP) D19H and T400K in ... BeFree 20594224 Detail
0.132 cholelithiasis To investigate a possible association between transporter gene polymorphism and ... BeFree 17612515 Detail
0.026 Hypercholesterolemia Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABC... BeFree 18522623 Detail
0.149 cholelithiasis Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABC... BeFree 18522623 Detail
0.131 cholecystolithiasis Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABC... BeFree 18522623 Detail
0.144 cholecystolithiasis Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABC... BeFree 18522623 Detail
0.131 cholecystolithiasis To investigate a possible association between transporter gene polymorphism and ... BeFree 17612515 Detail
0.144 cholecystolithiasis To investigate a possible association between transporter gene polymorphism and ... BeFree 17612515 Detail
<0.001 Malignant neoplasm of gallbladder Carriers of the ABCG8 haplotype C-C (rs4148217-rs11887534) had a 4.16-fold (95% ... BeFree 21062971 Detail
0.149 cholelithiasis These findings indicate that the T400K polymorphism in ABCG8 may be associated w... BeFree 17612515 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_022437.3(ABCG8):c.1199C>T (p.Thr400Met) AND Sitosterolemia 1 ClinVar Detail
Studies have identified single nucleotide polymorphisms (SNP) D19H and T400K in the cholesterol tran... DisGeNET Detail
To investigate a possible association between transporter gene polymorphism and gallstone formation,... DisGeNET Detail
Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have... DisGeNET Detail
Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have... DisGeNET Detail
Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have... DisGeNET Detail
Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have... DisGeNET Detail
To investigate a possible association between transporter gene polymorphism and gallstone formation,... DisGeNET Detail
To investigate a possible association between transporter gene polymorphism and gallstone formation,... DisGeNET Detail
Carriers of the ABCG8 haplotype C-C (rs4148217-rs11887534) had a 4.16-fold (95% CI 1.71-10.1) risk o... DisGeNET Detail
These findings indicate that the T400K polymorphism in ABCG8 may be associated with the incidence of... 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
hg19
Position
chr2:44,099,433-44,099,433
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8180
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)
116184
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.58211113406321E-5
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