chr5:63255991:A>G Detail (hg19) (HTR1A)

Information

Genome

Assembly Position
hg19 chr5:63,255,991-63,255,991
hg38 chr5:63,960,164-63,960,164 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000524.3:c.*287T>C
Ensemble ENST00000323865.5:c.*287T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.774
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 109760 OMIM
HGNC 5286 HGNC
Ensembl ENSG00000178394 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv21330528 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
0.188 Mood Disorders Three genes contributed exclusively to mood disorders, one through a main effect... BeFree 19381154 Detail
0.018 Mood Disorders Three genes contributed exclusively to mood disorders, one through a main effect... BeFree 19381154 Detail
0.008 bipolar disorder Results from this expanded meta-analysis, which included our own new study, sugg... BeFree 22752684 Detail
Annotation

Annotations

DescrptionSourceLinks
Three genes contributed exclusively to mood disorders, one through a main effect (HTR5A (rs1657268))... DisGeNET Detail
Three genes contributed exclusively to mood disorders, one through a main effect (HTR5A (rs1657268))... DisGeNET Detail
Results from this expanded meta-analysis, which included our own new study, suggest that rs6295 (C-1... 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
rs878567 dbSNP
Genome
hg19
Position
chr5:63,255,991-63,255,991
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs878567
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7736
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12966
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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