chr6:15649598:C>T Detail (hg38) (DTNBP1)

Information

Genome

Assembly Position
hg19 chr6:15,649,829-15,649,829 View the variant detail on this assembly version.
hg38 chr6:15,649,598-15,649,598

HGVS

Type Transcript Protein
RefSeq NM_183040.2:c.161+1715G>A
NM_032122.4:c.161+1715G>A
NM_001271667.1:c.110+2489G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.084
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 607145 OMIM
HGNC 17328 HGNC
Ensembl ENSG00000047579 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24376296 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 Drug habituation According to this practical and scientific demand, we aimed to investigate the r... BeFree 20421849 Detail
Annotation

Annotations

DescrptionSourceLinks
According to this practical and scientific demand, we aimed to investigate the relationship between ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2619528 dbSNP
Genome
hg38
Position
chr6:15,649,598-15,649,598
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))
rs2619528
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0838
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1404
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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