chr7:6022512:> Detail (hg19) (PMS2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:6,022,512-6,022,512 |
| hg38 | chr7:5,982,881-5,982,881 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| glioblastoma | Nivolumab | C |
Predictive
|
Supports
|
Sensitivity/Response | Rare Germline | 4 | 27001570 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Two siblings (6 and 3.5 years) from nonconsanguineous parents were diagnosed with glioblastoma multi... | CIViC Evidence | 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
- -
- Genome
- hg19
- Position
- chr7:6,022,512-6,022,512
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- K706FS*19
- Transcript 1 (CIViC Variant)
- ENST00000265849.7
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/508
Genome browser