chr14:52708205:A>G Detail (hg38) (PSMC6)

Information

Genome

Assembly Position
hg19 chr14:53,174,923-53,174,923 View the variant detail on this assembly version.
hg38 chr14:52,708,205-52,708,205

HGVS

Type Transcript Protein
RefSeq NM_002806.3:c.128-104A>G
Ensemble ENST00000445930.7:c.86-104A>G
ENST00000612399.4:c.128-104A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.166
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 602708 OMIM
HGNC 9553 HGNC
Ensembl ENSG00000100519 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv50802564 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
rs2295826 dbSNP
Genome
hg38
Position
chr14:52,708,205-52,708,205
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs2295826
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1655
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2774
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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