chr16:55731917:G>T Detail (hg19) (SLC6A2)

Information

Genome

Assembly Position
hg19 chr16:55,731,917-55,731,917
hg38 chr16:55,698,005-55,698,005 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001172502.1:c.1054G>T NP_001165973.1:p.Ala352Ser
NM_001172501.1:c.1369G>T NP_001165972.1:p.Ala457Ser
NM_001172504.1:c.1369G>T NP_001165975.1:p.Ala457Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 163970 OMIM
HGNC 11048 HGNC
Ensembl ENSG00000103546 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv55587078 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
<0.001 Autonomic nervous system disorders Recently, our laboratory reported a polymorphism in the human NET (hNET) gene A4... BeFree 12805287 Detail
<0.001 postural orthostatic tachycardia syndrome All patients did not show the Ala457Pro mutation of NET; all sequence variants d... BeFree 15946904 Detail
0.123 Mitral Valve Prolapse Syndrome NA CLINVAR Detail
0.123 Mitral Valve Prolapse Syndrome Orthostatic intolerance is not necessarily related to a specific mutation (Ala45... BeFree 12589229 Detail
0.005 postural orthostatic tachycardia syndrome (a) DNA extraction from leukocytes of 29 patients with POTS; (b) Denaturing high... BeFree 15946904 Detail
Annotation

Annotations

DescrptionSourceLinks
Recently, our laboratory reported a polymorphism in the human NET (hNET) gene A457P in an individual... DisGeNET Detail
All patients did not show the Ala457Pro mutation of NET; all sequence variants detected in alpha(2C)... DisGeNET Detail
NA DisGeNET Detail
Orthostatic intolerance is not necessarily related to a specific mutation (Ala457Pro) in the human n... DisGeNET Detail
(a) DNA extraction from leukocytes of 29 patients with POTS; (b) Denaturing high performance liquid ... 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
rs121918126 dbSNP
Genome
hg19
Position
chr16:55,731,917-55,731,917
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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))
rs121918126
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
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)
121412
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)
8.236418146476461E-6
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