chr10:89624275:C>T Detail (hg19) (PTEN)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:89,624,275-89,624,275 |
| hg38 | chr10:87,864,518-87,864,518 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000314.6:c.49C>T | NP_000305.3:p.Gln17Ter |
| NM_001304717.2:c.49C>T | NP_001291646.2:p.Gln17Ter | |
| NM_001304718.1:c.49C>T | NP_001291647.1:p.Gln17Ter |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2020/04/20 | bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2022-02-28 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-02-24 | criteria provided, single submitter | PTEN hamartoma tumor syndrome |
germline
|
Detail |
|
Pathogenic
|
2019-03-20 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Pathogenic
|
2023-09-25 | criteria provided, single submitter | Cowden syndrome 1 |
unknown
|
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.49C>T (p.Gln17Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000314.8(PTEN):c.49C>T (p.Gln17Ter) AND PTEN hamartoma tumor syndrome | ClinVar | Detail |
| NM_000314.8(PTEN):c.49C>T (p.Gln17Ter) AND not specified | ClinVar | Detail |
| NM_000314.8(PTEN):c.49C>T (p.Gln17Ter) AND Cowden syndrome 1 | 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
- rs786204910 dbSNP
- Genome
- hg19
- Position
- chr10:89,624,275-89,624,275
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser