chr2:44104925:T>C Detail (hg19) (ABCG8)

Information

Genome

Assembly Position
hg19 chr2:44,104,925-44,104,925
hg38 chr2:43,877,786-43,877,786 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_022437.2:c.1895T>C NP_071882.1:p.Val632Ala
Ensemble ENST00000272286.4:c.1895T>C ENST00000272286.4:p.Val632Ala
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.999
ToMMo:1.000
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:1.000

Prediction

ClinVar

Clinical Significance Benign
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 tgv6683724 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-07-14 criteria provided, multiple submitters, no conflicts Sitosterolemia 1 germline Detail
Benign 2023-04-04 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2018-12-03 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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
Annotation

Annotations

DescrptionSourceLinks
NM_022437.3(ABCG8):c.1895T>C (p.Val632Ala) AND Sitosterolemia 1 ClinVar Detail
NM_022437.3(ABCG8):c.1895T>C (p.Val632Ala) AND not specified ClinVar Detail
NM_022437.3(ABCG8):c.1895T>C (p.Val632Ala) AND not provided ClinVar Detail
NM_022437.3(ABCG8):c.1895T>C (p.Val632Ala) AND Cardiovascular phenotype ClinVar 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

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
rs6544718 dbSNP
Genome
hg19
Position
chr2:44,104,925-44,104,925
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
131.69
Standard deviation of sample read depth (HGVD)
58.39
Number of reference allele (HGVD)
3
Number of alternative allele (HGVD)
2413
Allele Frequency (HGVD)
0.9987582781456954
Gene Symbol (HGVD)
ABCG8
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs6544718
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9999
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16759
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
8651
East Asian Heterozygous Counts (ExAC)
3
East Asian Homozygous Counts (ExAC)
4324
East Asian Allele Frequency (ExAC)
0.9996533394961867
Chromosome Counts in All Race (ExAC)
121392
Allele Counts in All Race (ExAC)
102222
Heterozygous Counts in All Race (ExAC)
15249
Homozygous Counts in All Race (ExAC)
43486
Allele Frequency in All Race (ExAC)
0.8420818505338078
Genome browser