chr14:52708263:C>T Detail (hg38) (PSMC6)

Information

Genome

Assembly Position
hg19 chr14:53,174,981-53,174,981 View the variant detail on this assembly version.
hg38 chr14:52,708,263-52,708,263

HGVS

Type Transcript Protein
RefSeq NM_002806.3:c.128-46C>T
Ensemble ENST00000445930.7:c.86-46C>T
ENST00000612399.4:c.128-46C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.164
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.142

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 602708 OMIM
HGNC 9553 HGNC
Ensembl ENSG00000100519 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv50802568 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 asthma To investigate polymorphisms of proteasomal genes PSMA6 (rs1048990 and rs2277460... BeFree 25375907 Detail
Annotation

Annotations

DescrptionSourceLinks
To investigate polymorphisms of proteasomal genes PSMA6 (rs1048990 and rs2277460), PSMC6 (rs2295826 ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2295827 dbSNP
Genome
hg38
Position
chr14:52,708,263-52,708,263
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))
rs2295827
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1645
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2757
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
7714
East Asian Allele Counts (ExAC)
1095
East Asian Heterozygous Counts (ExAC)
959
East Asian Homozygous Counts (ExAC)
68
East Asian Allele Frequency (ExAC)
0.1419497018408089
Chromosome Counts in All Race (ExAC)
112734
Allele Counts in All Race (ExAC)
11166
Heterozygous Counts in All Race (ExAC)
9868
Homozygous Counts in All Race (ExAC)
649
Allele Frequency in All Race (ExAC)
0.09904731491830326
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