GRCh38/hg38 20p12.2(chr20:9771030-9988151)x3 Detail (hg19) (PAK5, PARAL1, LOC126862969, LOC130065413, LOC130065414)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr20:9,751,678-9,968,799 |
| hg38 | chr20:9,771,030-9,988,151 View the variant detail on this assembly version. |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
ClinVar
| Clinical Significance |
Likely benign
|
| Review star |  |
| Show details | |
Links
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | ||
| HGNC | |||
| Ensembl | |||
| NCBI | |||
| Gene Cards | |||
| OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2011-04-30 | no assertion criteria provided |
not provided
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| GRCh38/hg38 20p12.2(chr20:9771030-9988151)x3 AND See cases | 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
- -
- Genome
- hg19
- Position
- chr20:9,751,678-9,968,799
- Variant Type
- cnv
Genome browser