chr15:40202609:G>A Detail (hg38) (BUB1B)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:40,494,810-40,494,810 View the variant detail on this assembly version. |
| hg38 | chr15:40,202,609-40,202,609 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001211.5:c.1649G>A | NP_001202.4:p.Arg550Gln |
| Ensemble | ENST00000287598.11:c.1649G>A | ENST00000287598.11:p.Arg550Gln |
| ENST00000412359.7:c.1691G>A | ENST00000412359.7:p.Arg564Gln |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.002 |
| ToMMo:0.004 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.022 |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
Likely benign
|
2024-01-30 | criteria provided, multiple submitters, no conflicts | mosaic variegated aneuploidy syndrome 1 |
germline
unknown
|
Detail |
Affects
|
2004-11-01 | no assertion criteria provided | Premature chromatid separation trait |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.562 | mosaic variegated aneuploidy syndrome | NA | CLINVAR | Detail | |
| 0.562 | mosaic variegated aneuploidy syndrome | Constitutional aneuploidy and cancer predisposition caused by biallelic mutation... | UNIPROT | 15475955 | Detail |
| 0.360 | Premature chromatid separation trait | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln) AND Mosaic variegated aneuploidy syndrome 1 | ClinVar | Detail |
| NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln) AND Premature chromatid separation trait | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. | DisGeNET | Detail |
| NA | 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
- -
- dbSNP
- rs28989187 dbSNP
- Genome
- hg38
- Position
- chr15:40,202,609-40,202,609
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 99.52
- Standard deviation of sample read depth (HGVD)
- 51.59
- Number of reference allele (HGVD)
- 2416
- Number of alternative allele (HGVD)
- 4
- Allele Frequency (HGVD)
- 0.001652892561983471
- Gene Symbol (HGVD)
- BUB1B
- 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))
- rs28989187
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0038
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 64
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 189
- East Asian Heterozygous Counts (ExAC)
- 187
- East Asian Homozygous Counts (ExAC)
- 1
- East Asian Allele Frequency (ExAC)
- 0.02183961174023573
- Chromosome Counts in All Race (ExAC)
- 121398
- Allele Counts in All Race (ExAC)
- 195
- Heterozygous Counts in All Race (ExAC)
- 193
- Homozygous Counts in All Race (ExAC)
- 1
- Allele Frequency in All Race (ExAC)
- 0.001606286759254683
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