chr5:1394407:C>T Detail (hg38) (SLC6A3)

Information

Genome

Assembly Position
hg19 chr5:1,394,522-1,394,522 View the variant detail on this assembly version.
hg38 chr5:1,394,407-1,394,407

HGVS

Type Transcript Protein
RefSeq NM_001044.4:c.*328G>A
Ensemble ENST00000270349.12:c.*328G>A
ENST00000713696.1:c.*386G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.191
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 126455 OMIM
HGNC 11049 HGNC
Ensembl ENSG00000142319 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv20015743 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2020-07-15 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.340 attention deficit hyperactivity disorder Three dopamine transporter gene (SLC6A3/DAT1) polymorphisms (intron8 5/6 VNTR, 3... BeFree 24780147 Detail
<0.001 NEUROTICISM There were significant effects of ANKK1/DRD2 Taq1A on Neuroticism (p=0.016) and ... BeFree 21354244 Detail
0.001 NEUROTICISM There were significant effects of ANKK1/DRD2 Taq1A on Neuroticism (p=0.016) and ... BeFree 21354244 Detail
<0.001 NEUROTICISM There were significant effects of ANKK1/DRD2 Taq1A on Neuroticism (p=0.016) and ... BeFree 21354244 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001044.5(SLC6A3):c.*328G>A AND not provided ClinVar Detail
Three dopamine transporter gene (SLC6A3/DAT1) polymorphisms (intron8 5/6 VNTR, 3'-UTR 9/10 VNTR, rs2... DisGeNET Detail
There were significant effects of ANKK1/DRD2 Taq1A on Neuroticism (p=0.016) and of SLC6A3 rs27072 on... DisGeNET Detail
There were significant effects of ANKK1/DRD2 Taq1A on Neuroticism (p=0.016) and of SLC6A3 rs27072 on... DisGeNET Detail
There were significant effects of ANKK1/DRD2 Taq1A on Neuroticism (p=0.016) and of SLC6A3 rs27072 on... 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
rs27072 dbSNP
Genome
hg38
Position
chr5:1,394,407-1,394,407
Variant Type
snv
Reference Allele
C
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))
rs27072
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1912
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3204
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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