chr13:46835532:C>T Detail (hg38) (HTR2A)

Information

Genome

Assembly Position
hg19 chr13:47,409,667-47,409,667 View the variant detail on this assembly version.
hg38 chr13:46,835,532-46,835,532

HGVS

Type Transcript Protein
RefSeq NM_000621.4:c.721G>A NP_000612.1:p.Val241Met
NM_001165947.2:c.232G>A NP_001159419.1:p.Val78Met
Ensemble ENST00000542664.4:c.721G>A ENST00000542664.4:p.Val241Met
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
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 182135 OMIM
HGNC 5293 HGNC
Ensembl ENSG00000102468 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
0.127 major depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.082 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.026 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.002 Unipolar Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.013 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.006 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.088 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.018 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.087 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.002 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.003 major depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.004 Unipolar Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.020 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.009 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.033 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.006 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.038 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.009 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.043 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.007 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.020 panic disorder Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1... BeFree 18832011 Detail
0.005 PANIC DISORDER 1 Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1... BeFree 18832011 Detail
0.002 PANIC DISORDER 1 Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1... BeFree 18832011 Detail
0.162 panic disorder Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1... BeFree 18832011 Detail
<0.001 Inattention Furthermore, two candidate genes for ADHD, the COMT VAL158MET and the 5-HT2a T10... BeFree 16362639 Detail
Annotation

Annotations

DescrptionSourceLinks
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1019C-G, 5-HTR2A 102T... DisGeNET Detail
Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1019C-G, 5-HTR2A 102T... DisGeNET Detail
Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1019C-G, 5-HTR2A 102T... DisGeNET Detail
Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1019C-G, 5-HTR2A 102T... DisGeNET Detail
Furthermore, two candidate genes for ADHD, the COMT VAL158MET and the 5-HT2a T102C polymorphisms, we... 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
chr13:46,835,532-46,835,532
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8642
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)
121162
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.253412786187088E-6
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