chr10:89711967:T> Detail (hg19) (PTEN)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:89,711,967-89,711,967 |
| hg38 | chr10:87,952,210-87,952,210 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000314.6:c.585delT | NP_000305.3:p.His196ThrfsTer3 |
| NM_001304717.2:c.585delT | NP_001291646.2:p.His196ThrfsTer3 | |
| NM_001304718.1:c.585delT | NP_001291647.1:p.His196ThrfsTer3 |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
Glioma |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2014-05-16 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000314.8(PTEN):c.585del (p.His196fs) AND Hereditary cancer-predisposing syndrome | ClinVar | 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
- rs786204901 dbSNP
- Genome
- hg19
- Position
- chr10:89,711,967-89,711,967
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- -
Genome browser