chrX:114731326:C>G Detail (hg38) (HTR2C)

Information

Genome

Assembly Position
hg19 chrX:113,965,735-113,965,735 View the variant detail on this assembly version.
hg38 chrX:114,731,326-114,731,326

HGVS

Type Transcript Protein
RefSeq NM_000868.3:c.68C>G NP_000859.1:p.Ser23Cys
NM_001256761.2:c.68C>G NP_001243690.1:p.Ser23Cys
NM_001256760.2:c.68C>G NP_001243689.1:p.Ser23Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 312861 OMIM
HGNC 5295 HGNC
Ensembl ENSG00000147246 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv66842174 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
0.007 Dyskinetic syndrome To investigate the association between orofaciolingual (TDof) and limb-truncal d... BeFree 19439249 Detail
<0.001 Dyskinetic syndrome To investigate the association between orofaciolingual (TDof) and limb-truncal d... BeFree 19439249 Detail
0.120 Dyskinetic syndrome To investigate the association between orofaciolingual (TDof) and limb-truncal d... BeFree 19439249 Detail
0.004 Unipolar Depression [ Major depression and bipolar disorder both associated with 5-HT2C receptor cy... GAD 11526472 Detail
0.004 Alcoholic Intoxication, Chronic In our sample, the functional relevant 5-HTT promoter and the 5-HT2c receptor Cy... BeFree 14574222 Detail
0.084 Anxiety Disorders Associations between 5-HTR2A -1438A/G and 5-HTR2C Cys23Ser polymorphisms and dep... BeFree 24770757 Detail
0.082 attention deficit hyperactivity disorder In our sample, the functional relevant 5-HTT promoter and the 5-HT2c receptor Cy... BeFree 14574222 Detail
<0.001 Recurrent major depressive episodes We examined a structural variant of the serotonin 2C (5-HT2C) receptor gene (HTR... BeFree 11526472 Detail
0.002 Mental disorders There is a common polymorphism of the human 5-HT2C receptor at codon 23 (cys23se... BeFree 10412190 Detail
0.215 Alcoholic Intoxication, Chronic In our sample, the functional relevant 5-HTT promoter and the 5-HT2c receptor Cy... BeFree 14574222 Detail
0.002 Mood Disorders The role of 5-HTTLPR and 5-HT2C Cys23Ser polymorphisms in the psychopathology of... BeFree 25596490 Detail
0.004 Alcoholic Intoxication, Chronic This finding suggests that 5-HT2C receptors are involved in the regulation of no... BeFree 10494451 Detail
0.188 Mood Disorders The role of 5-HTTLPR and 5-HT2C Cys23Ser polymorphisms in the psychopathology of... BeFree 25596490 Detail
0.008 attention deficit hyperactivity disorder In our sample, the functional relevant 5-HTT promoter and the 5-HT2c receptor Cy... BeFree 14574222 Detail
0.089 major depressive disorder [ Major depression and bipolar disorder both associated with 5-HT2C receptor cy... GAD 11526472 Detail
0.146 obesity Evaluation of a Cys23Ser mutation within the human 5-HT2C receptor gene: no evid... BeFree 9200673 Detail
0.003 seasonal affective disorder A Cys 23-Ser 23 substitution in the 5-HT(2C) receptor gene influences body weigh... BeFree 16157158 Detail
<0.001 bipolar I disorder The serotonin transporter (5-HTTLPR) but not serotonin receptor (5-HT2C Cys23Ser... BeFree 25596490 Detail
0.006 Migraine Disorders Genetic association study and meta-analysis of the HTR2C Cys23Ser polymorphism a... BeFree 17901921 Detail
0.002 Mood Disorders In humans, a common missense single-nucleotide change (rs6318, Cys23Ser) in the ... BeFree 22764241 Detail
0.002 Mood Disorders Variability of 5-HT2C receptor cys23ser polymorphism among European populations ... BeFree 11526472 Detail
<0.001 bipolar I disorder The serotonin transporter (5-HTTLPR) but not serotonin receptor (5-HT2C Cys23Ser... BeFree 25596490 Detail
0.009 migraine with aura Our study did not confirm the HTR2C Cys23Ser polymorphism as a risk factor for m... BeFree 17901921 Detail
<0.001 premature ejaculation The 5-HT2C receptor gene Cys23Ser polymorphism influences the intravaginal ejacu... BeFree 24799636 Detail
<0.001 Pituitary Diseases Previously we have shown that a functional nonsynonymous single nucleotide polym... BeFree 25457638 Detail
0.009 migraine with aura The present study provides that 5HTR2c Cys23Ser polymorphism may be associated w... BeFree 15147464 Detail
<0.001 Pituitary Diseases Previously we have shown that a functional nonsynonymous single nucleotide polym... BeFree 24386118 Detail
0.004 Alcoholic Intoxication, Chronic 5-HT2C Cys23Ser allele frequencies and genotypes did not differ among patients w... BeFree 10994642 Detail
<0.001 Cardiovascular Diseases These findings suggest that this functional polymorphism of the 5HTR2C gene is a... BeFree 24386118 Detail
Annotation

Annotations

DescrptionSourceLinks
To investigate the association between orofaciolingual (TDof) and limb-truncal dyskinesias (TDlt) an... DisGeNET Detail
To investigate the association between orofaciolingual (TDof) and limb-truncal dyskinesias (TDlt) an... DisGeNET Detail
To investigate the association between orofaciolingual (TDof) and limb-truncal dyskinesias (TDlt) an... DisGeNET Detail
[ Major depression and bipolar disorder both associated with 5-HT2C receptor cys23ser polymorphism ... DisGeNET Detail
In our sample, the functional relevant 5-HTT promoter and the 5-HT2c receptor Cys23Ser polymorphism ... DisGeNET Detail
Associations between 5-HTR2A -1438A/G and 5-HTR2C Cys23Ser polymorphisms and depression and its seve... DisGeNET Detail
In our sample, the functional relevant 5-HTT promoter and the 5-HT2c receptor Cys23Ser polymorphism ... DisGeNET Detail
We examined a structural variant of the serotonin 2C (5-HT2C) receptor gene (HTR2C) that gives rise ... DisGeNET Detail
There is a common polymorphism of the human 5-HT2C receptor at codon 23 (cys23ser) which has been re... DisGeNET Detail
In our sample, the functional relevant 5-HTT promoter and the 5-HT2c receptor Cys23Ser polymorphism ... DisGeNET Detail
The role of 5-HTTLPR and 5-HT2C Cys23Ser polymorphisms in the psychopathology of mood disorders and ... DisGeNET Detail
This finding suggests that 5-HT2C receptors are involved in the regulation of norepinephrine turnove... DisGeNET Detail
The role of 5-HTTLPR and 5-HT2C Cys23Ser polymorphisms in the psychopathology of mood disorders and ... DisGeNET Detail
In our sample, the functional relevant 5-HTT promoter and the 5-HT2c receptor Cys23Ser polymorphism ... DisGeNET Detail
[ Major depression and bipolar disorder both associated with 5-HT2C receptor cys23ser polymorphism ... DisGeNET Detail
Evaluation of a Cys23Ser mutation within the human 5-HT2C receptor gene: no evidence for an associat... DisGeNET Detail
A Cys 23-Ser 23 substitution in the 5-HT(2C) receptor gene influences body weight regulation in fema... DisGeNET Detail
The serotonin transporter (5-HTTLPR) but not serotonin receptor (5-HT2C Cys23Ser) variant is associa... DisGeNET Detail
Genetic association study and meta-analysis of the HTR2C Cys23Ser polymorphism and migraine. DisGeNET Detail
In humans, a common missense single-nucleotide change (rs6318, Cys23Ser) in the 5-HT(2C) receptor ge... DisGeNET Detail
Variability of 5-HT2C receptor cys23ser polymorphism among European populations and vulnerability to... DisGeNET Detail
The serotonin transporter (5-HTTLPR) but not serotonin receptor (5-HT2C Cys23Ser) variant is associa... DisGeNET Detail
Our study did not confirm the HTR2C Cys23Ser polymorphism as a risk factor for migraine and MA. DisGeNET Detail
The 5-HT2C receptor gene Cys23Ser polymorphism influences the intravaginal ejaculation latency time ... DisGeNET Detail
Previously we have shown that a functional nonsynonymous single nucleotide polymorphism (SNP), rs631... DisGeNET Detail
The present study provides that 5HTR2c Cys23Ser polymorphism may be associated with MWA in Japanese ... DisGeNET Detail
Previously we have shown that a functional nonsynonymous single nucleotide polymorphism (rs6318) of ... DisGeNET Detail
5-HT2C Cys23Ser allele frequencies and genotypes did not differ among patients with alcohol dependen... DisGeNET Detail
These findings suggest that this functional polymorphism of the 5HTR2C gene is associated with incre... 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
rs6318 dbSNP
Genome
hg38
Position
chrX:114,731,326-114,731,326
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser