chr15:40176672:C>T Detail (hg38) (BUB1B)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:40,468,873-40,468,873 View the variant detail on this assembly version. |
| hg38 | chr15:40,176,672-40,176,672 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001211.5:c.580C>T | NP_001202.4:p.Arg194Ter |
| Ensemble | ENST00000287598.11:c.580C>T | ENST00000287598.11:p.Arg194Ter |
| ENST00000412359.7:c.622C>T | ENST00000412359.7:p.Arg208Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
Likely pathogenic
|
2023-09-12 | criteria provided, multiple submitters, no conflicts | mosaic variegated aneuploidy syndrome 1 |
germline
maternal
|
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 | |
| 0.360 | Premature chromatid separation trait | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter) AND Mosaic variegated aneuploidy syndrome 1 | ClinVar | Detail |
| NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter) AND Premature chromatid separation trait | ClinVar | Detail |
| NA | 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
- rs28989186 dbSNP
- Genome
- hg38
- Position
- chr15:40,176,672-40,176,672
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser