chr15:40218506:A>T Detail (hg38) (BUB1B, PAK6, BUB1B-PAK6)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:40,510,707-40,510,707 View the variant detail on this assembly version. |
| hg38 | chr15:40,218,506-40,218,506 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001211.5:c.2901A>T | NP_001202.4:p.Glu967Asp |
| Ensemble | ENST00000287598.11:c.2901A>T | ENST00000287598.11:p.Glu967Asp |
| ENST00000412359.7:c.2943A>T | ENST00000412359.7:p.Glu981Asp |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001128628.2:c.-201+839A>T | |
| Ensemble | ENST00000441369.6:c.-201+839A>T | |
| ENST00000453867.7:c.-118+839A>T |
Summary
MGeND
| Clinical significance |
Uncertain significance
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Uncertain significance
|
2019/11/22 | breast, unspecified |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Uncertain significance
|
2019/11/22 | malignant melanoma of skin, unspecified |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2022-12-16 | criteria provided, single submitter | mosaic variegated aneuploidy syndrome 1 |
germline
|
Detail |
|
Uncertain significance
|
2021-09-22 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001211.6(BUB1B):c.2901A>T (p.Glu967Asp) AND Mosaic variegated aneuploidy syndrome 1 | ClinVar | Detail |
| NM_001211.6(BUB1B):c.2901A>T (p.Glu967Asp) AND Inborn genetic diseases | ClinVar | 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
- rs762290287 dbSNP
- Genome
- hg38
- Position
- chr15:40,218,506-40,218,506
- Variant Type
- snv
- Reference Allele
- A
- 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))
- rs762290287
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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