chr16:56990026:C>T Detail (hg38) (NLRC5)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:57,023,938-57,023,938 View the variant detail on this assembly version. |
| hg38 | chr16:56,990,026-56,990,026 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000262510.10:c.-128+431C>T | |
| ENST00000688547.1:c.-128+409C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.167 | |
| 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 | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | multiple myeloma | In our retrospective study, we analyzed candidate single-nucleotide polymorphism... | BeFree | 21859556 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In our retrospective study, we analyzed candidate single-nucleotide polymorphisms (SNP), CINP (rs701... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs289747 dbSNP
- Genome
- hg38
- Position
- chr16:56,990,026-56,990,026
- 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))
- rs289747
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1665
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2791
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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