chr4:88929242:CCCGGGCA>TAGGACG Detail (hg19) (PKD2, LOC129992813)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:88,929,242-88,929,249 |
| hg38 | chr4:88,008,090-88,008,097 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000297.3:c.357_364delinsTAGGACG | NP_000288.1:p.Pro120ArgfsTer12 |
| Ensemble | ENST00000237596.7:c.357_364delinsTAGGACG | ENST00000237596.7:p.Pro120ArgfsTer12 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2015-11-25 | criteria provided, single submitter | polycystic kidney disease,Hypertensive disorder |
unknown
|
Detail |
|
Pathogenic
|
2015-11-25 | criteria provided, single submitter | polycystic kidney disease,Hypertensive disorder |
unknown
|
Detail |
|
Pathogenic
|
2017-01-01 | criteria provided, single submitter | polycystic kidney disease |
unknown
|
Detail |
|
Pathogenic
|
2016-01-01 | criteria provided, single submitter | polycystic kidney disease 2 |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs) AND multiple conditions | ClinVar | Detail |
| NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs) AND multiple conditions | ClinVar | Detail |
| NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs) AND Polycystic kidney disease | ClinVar | Detail |
| NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs) AND Polycystic kidney disease 2 | 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
- rs1057518797 dbSNP
- Genome
- hg19
- Position
- chr4:88,929,242-88,929,249
- Variant Type
- snv
- Reference Allele
- CCCGGGCA
- Alternative Allele
- TAGGACG
Genome browser