chr2:168973818:A>T Detail (hg38) (ABCB11)

Information

Genome

Assembly Position
hg19 chr2:169,830,328-169,830,328 View the variant detail on this assembly version.
hg38 chr2:168,973,818-168,973,818

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000650372.1:c.1331T>A ENST00000650372.1:p.Val444Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.006
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 603201 OMIM
HGNC 42 HGNC
Ensembl ENSG00000073734 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
0.018 cholelithiasis In our study we investigated the contribution of heterozygosity for common varia... BeFree 20163776 Detail
0.006 cholelithiasis In our study we investigated the contribution of heterozygosity for common varia... BeFree 20163776 Detail
0.149 cholelithiasis In our study we investigated the contribution of heterozygosity for common varia... BeFree 20163776 Detail
<0.001 Cholesterol gallstones In our study we investigated the contribution of heterozygosity for common varia... BeFree 20163776 Detail
0.002 Cholesterol gallstones In our study we investigated the contribution of heterozygosity for common varia... BeFree 20163776 Detail
0.002 Cholesterol gallstones In our study we investigated the contribution of heterozygosity for common varia... BeFree 20163776 Detail
0.126 Cholestasis of pregnancy To study the association of three common ABCB11 and ABCC2 polymorphisms (ABCB11:... BeFree 18176959 Detail
0.126 Cholestasis of pregnancy One mutation (E186G) had been described in one BRIC-2 case; the second mutation ... BeFree 16394881 Detail
0.213 cholestasis A common variant of BSEP (p.V444A) is now a well-established susceptibility fact... BeFree 21320040 Detail
0.003 Hepatitis C, Chronic On the other hand, the common BSEP polymorphism V444A (c.1331T&gt;C; allele freq... BeFree 21691112 Detail
<0.001 hepatitis C A common variant of BSEP (p.V444A) is now a well-established susceptibility fact... BeFree 21320040 Detail
Annotation

Annotations

DescrptionSourceLinks
In our study we investigated the contribution of heterozygosity for common variations considered eit... DisGeNET Detail
In our study we investigated the contribution of heterozygosity for common variations considered eit... DisGeNET Detail
In our study we investigated the contribution of heterozygosity for common variations considered eit... DisGeNET Detail
In our study we investigated the contribution of heterozygosity for common variations considered eit... DisGeNET Detail
In our study we investigated the contribution of heterozygosity for common variations considered eit... DisGeNET Detail
In our study we investigated the contribution of heterozygosity for common variations considered eit... DisGeNET Detail
To study the association of three common ABCB11 and ABCC2 polymorphisms (ABCB11: 1331T&gt;C --&gt; V... DisGeNET Detail
One mutation (E186G) had been described in one BRIC-2 case; the second mutation (V444A) is more freq... DisGeNET Detail
A common variant of BSEP (p.V444A) is now a well-established susceptibility factor for acquired chol... DisGeNET Detail
On the other hand, the common BSEP polymorphism V444A (c.1331T&gt;C; allele frequency 65%) emerged a... DisGeNET Detail
A common variant of BSEP (p.V444A) is now a well-established susceptibility factor for acquired chol... 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
hg38
Position
chr2:168,973,818-168,973,818
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1198
Mean of sample read depth (HGVD)
45.09
Standard deviation of sample read depth (HGVD)
33.38
Number of reference allele (HGVD)
615
Number of alternative allele (HGVD)
4
Allele Frequency (HGVD)
0.006462035541195477
Gene Symbol (HGVD)
ABCB11
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