chr5:63961061:C>A Detail (hg38) (HTR1A)

Information

Genome

Assembly Position
hg19 chr5:63,256,888-63,256,888 View the variant detail on this assembly version.
hg38 chr5:63,961,061-63,961,061

HGVS

Type Transcript Protein
RefSeq NM_000524.3:c.659G>T NP_000515.2:p.Arg220Leu
Ensemble ENST00000323865.5:c.659G>T ENST00000323865.5:p.Arg220Leu
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 Benign Likely benign
Review star
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 tgv21330681 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.019 Mental Depression In conclusion, our results favor the hypothesis that monoaminergic neurotransmis... BeFree 19105200 Detail
0.341 schizophrenia The authors examined the frequencies of gene polymorphisms in the 5-HT1A (Arg219... BeFree 9734554 Detail
0.083 depressive disorder In conclusion, our results favor the hypothesis that monoaminergic neurotransmis... BeFree 19105200 Detail
0.020 schizophrenia The authors examined the frequencies of gene polymorphisms in the 5-HT1A (Arg219... BeFree 9734554 Detail
0.052 Mental Depression In conclusion, our results favor the hypothesis that monoaminergic neurotransmis... BeFree 19105200 Detail
0.011 depressive disorder In conclusion, our results favor the hypothesis that monoaminergic neurotransmis... BeFree 19105200 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000524.4(HTR1A):c.659G>T (p.Arg220Leu) AND not provided ClinVar Detail
In conclusion, our results favor the hypothesis that monoaminergic neurotransmission in general and ... DisGeNET Detail
The authors examined the frequencies of gene polymorphisms in the 5-HT1A (Arg219Leu) and 5-HT2A (Thr... DisGeNET Detail
In conclusion, our results favor the hypothesis that monoaminergic neurotransmission in general and ... DisGeNET Detail
The authors examined the frequencies of gene polymorphisms in the 5-HT1A (Arg219Leu) and 5-HT2A (Thr... DisGeNET Detail
In conclusion, our results favor the hypothesis that monoaminergic neurotransmission in general and ... DisGeNET Detail
In conclusion, our results favor the hypothesis that monoaminergic neurotransmission in general 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
-
dbSNP
rs1800044 dbSNP
Genome
hg38
Position
chr5:63,961,061-63,961,061
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8624
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)
120694
Allele Counts in All Race (ExAC)
436
Heterozygous Counts in All Race (ExAC)
434
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.003612441380681724
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