chr6:52058355:G>A Detail (hg38) (PKHD1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:51,923,153-51,923,153 View the variant detail on this assembly version. |
| hg38 | chr6:52,058,355-52,058,355 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_170724.2:c.1480C>T | NP_733842.2:p.Arg494Ter |
| NM_138694.3:c.1480C>T | NP_619639.3:p.Arg494Ter | |
| Ensemble | ENST00000340994.4:c.1480C>T | ENST00000340994.4:p.Arg494Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
Likely pathogenic
|
2024-01-11 | criteria provided, multiple submitters, no conflicts | autosomal recessive polycystic kidney disease |
germline
unknown
|
Detail |
|
Pathogenic
|
2016-01-22 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | polycystic kidney disease |
germline
|
Detail | |
|
Pathogenic
|
2023-09-26 | criteria provided, multiple submitters, no conflicts | polycystic kidney disease 4 |
unknown
|
Detail |
|
Pathogenic
|
2022-12-21 | criteria provided, single submitter |
biparental
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.673 | autosomal recessive polycystic kidney disease | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) AND Autosomal recessive polycystic kidney disease | ClinVar | Detail |
| NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) AND not provided | ClinVar | Detail |
| NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) AND Polycystic kidney disease | ClinVar | Detail |
| NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) AND Polycystic kidney disease 4 | ClinVar | Detail |
| NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) AND See cases | 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
- rs754392766 dbSNP
- Genome
- hg38
- Position
- chr6:52,058,355-52,058,355
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser