chr11:113932306:A>C Detail (hg38) (HTR3B)

Information

Genome

Assembly Position
hg19 chr11:113,803,028-113,803,028 View the variant detail on this assembly version.
hg38 chr11:113,932,306-113,932,306

HGVS

Type Transcript Protein
RefSeq NM_006028.4:c.386A>C NP_006019.1:p.Tyr129Ser
Ensemble ENST00000260191.8:c.386A>C ENST00000260191.8:p.Tyr129Ser
ENST00000537778.5:c.353A>C ENST00000537778.5:p.Tyr118Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.273
ToMMo:0.290
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.171

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 604654 OMIM
HGNC 5298 HGNC
Ensembl ENSG00000149305 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44092858 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
0.003 Alcoholic Intoxication, Chronic The HTR3B rs1176744 gain-of-function Ser129 allele predicted alcohol dependence ... BeFree 20838391 Detail
0.006 heroin dependence The HTR3B rs1176744 gain-of-function Ser129 allele predicted alcohol dependence ... BeFree 20838391 Detail
<0.001 heroin dependence In this study, 360 treatment-seeking African American male patients with single ... BeFree 20838391 Detail
<0.001 anorexia nervosa In the pilot study, we found the coding HTR3B variant, p.Y129S, (rs1176744, P = ... BeFree 19741568 Detail
0.003 heroin dependence The HTR3B rs1176744 gain-of-function Ser129 allele predicted alcohol dependence ... BeFree 20838391 Detail
0.215 Alcoholic Intoxication, Chronic The HTR3B rs1176744 gain-of-function Ser129 allele predicted alcohol dependence ... BeFree 20838391 Detail
0.215 Alcoholic Intoxication, Chronic Subsequent analysis of these two interaction models revealed an OR of 2.71 and 2... BeFree 23757001 Detail
0.003 Alcoholic Intoxication, Chronic Subsequent analysis of these two interaction models revealed an OR of 2.71 and 2... BeFree 23757001 Detail
<0.001 MAJOR AFFECTIVE DISORDER 1 Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs106... BeFree 22832903 Detail
0.005 bipolar disorder Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs106... BeFree 22832903 Detail
<0.001 MAJOR AFFECTIVE DISORDER 5 Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs106... BeFree 22832903 Detail
<0.001 MAJOR AFFECTIVE DISORDER 6 Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs106... BeFree 22832903 Detail
<0.001 MAJOR AFFECTIVE DISORDER 9 Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs106... BeFree 22832903 Detail
<0.001 MAJOR AFFECTIVE DISORDER 8 Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs106... BeFree 22832903 Detail
<0.001 MAJOR AFFECTIVE DISORDER 4 Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs106... BeFree 22832903 Detail
<0.001 Major affective disorder 7 Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs106... BeFree 22832903 Detail
<0.001 MAJOR AFFECTIVE DISORDER 2 Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs106... BeFree 22832903 Detail
Annotation

Annotations

DescrptionSourceLinks
The HTR3B rs1176744 gain-of-function Ser129 allele predicted alcohol dependence (P=0.002) and low 5-... DisGeNET Detail
The HTR3B rs1176744 gain-of-function Ser129 allele predicted alcohol dependence (P=0.002) and low 5-... DisGeNET Detail
In this study, 360 treatment-seeking African American male patients with single and comorbid DSM-IV ... DisGeNET Detail
In the pilot study, we found the coding HTR3B variant, p.Y129S, (rs1176744, P = 0.004, odds ratio = ... DisGeNET Detail
The HTR3B rs1176744 gain-of-function Ser129 allele predicted alcohol dependence (P=0.002) and low 5-... DisGeNET Detail
The HTR3B rs1176744 gain-of-function Ser129 allele predicted alcohol dependence (P=0.002) and low 5-... DisGeNET Detail
Subsequent analysis of these two interaction models revealed an OR of 2.71 and 2.80, respectively, f... DisGeNET Detail
Subsequent analysis of these two interaction models revealed an OR of 2.71 and 2.80, respectively, f... DisGeNET Detail
Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs1062613, rs1176744 and ... DisGeNET Detail
Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs1062613, rs1176744 and ... DisGeNET Detail
Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs1062613, rs1176744 and ... DisGeNET Detail
Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs1062613, rs1176744 and ... DisGeNET Detail
Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs1062613, rs1176744 and ... DisGeNET Detail
Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs1062613, rs1176744 and ... DisGeNET Detail
Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs1062613, rs1176744 and ... DisGeNET Detail
Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs1062613, rs1176744 and ... DisGeNET Detail
Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs1062613, rs1176744 and ... 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
chr11:113,932,306-113,932,306
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1189
Mean of sample read depth (HGVD)
122.38
Standard deviation of sample read depth (HGVD)
57.43
Number of reference allele (HGVD)
1728
Number of alternative allele (HGVD)
650
Allele Frequency (HGVD)
0.27333894028595457
Gene Symbol (HGVD)
HTR3B
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))
rs1176744
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2897
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4855
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
1475
East Asian Heterozygous Counts (ExAC)
1185
East Asian Homozygous Counts (ExAC)
145
East Asian Allele Frequency (ExAC)
0.17055966697502312
Chromosome Counts in All Race (ExAC)
121126
Allele Counts in All Race (ExAC)
40843
Heterozygous Counts in All Race (ExAC)
26347
Homozygous Counts in All Race (ExAC)
7248
Allele Frequency in All Race (ExAC)
0.3371943265690273
Genome browser