chr6:32856171:G>A Detail (hg38) (PSMB9)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:32,823,948-32,823,948 View the variant detail on this assembly version. |
hg38 | chr6:32,856,171-32,856,171 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_002800.4:c.94G>A | NP_002791.1:p.Val32Ile |
Ensemble | ENST00000374859.3:c.94G>A | ENST00000374859.3:p.Val32Ile |
ENST00000395330.5:c.25G>A | ENST00000395330.5:p.Val9Ile |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.003 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2019-07-12 | criteria provided, single submitter | PSMB9-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.007 | colorectal cancer | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
<0.001 | colorectal carcinoma | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
<0.001 | colorectal carcinoma | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
0.003 | colorectal cancer | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
0.003 | colorectal cancer | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
<0.001 | colorectal carcinoma | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
0.002 | colorectal carcinoma | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
0.082 | colorectal carcinoma | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
0.003 | colorectal cancer | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
<0.001 | colorectal carcinoma | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
0.003 | colorectal cancer | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
0.003 | colorectal cancer | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
0.160 | colorectal cancer | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
<0.001 | colorectal carcinoma | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
0.003 | colorectal cancer | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
<0.001 | colorectal carcinoma | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
0.003 | colorectal cancer | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
0.003 | colorectal cancer | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
<0.001 | colorectal carcinoma | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
<0.001 | colorectal carcinoma | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_002800.5(PSMB9):c.94G>A (p.Val32Ile) AND PSMB9-related disorder | ClinVar | Detail |
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | DisGeNET | Detail |
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col... | 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
- -
- Genome
- hg38
- Position
- chr6:32,856,171-32,856,171
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8516
- East Asian Allele Counts (ExAC)
- 23
- East Asian Heterozygous Counts (ExAC)
- 23
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0027007984969469236
- Chromosome Counts in All Race (ExAC)
- 115988
- Allele Counts in All Race (ExAC)
- 1804
- Heterozygous Counts in All Race (ExAC)
- 1744
- Homozygous Counts in All Race (ExAC)
- 30
- Allele Frequency in All Race (ExAC)
- 0.015553333103424492
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