chr6:51524266:A>G Detail (hg19) (PKHD1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:51,524,266-51,524,266 |
| hg38 | chr6:51,659,468-51,659,468 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_138694.3:c.10658T>C | NP_619639.3:p.Ile3553Thr |
| Ensemble | ENST00000371117.8:c.10658T>C | ENST00000371117.8:p.Ile3553Thr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Conflicting interpretations of pathogenicity
|
2023-12-21 | criteria provided, conflicting interpretations | autosomal recessive polycystic kidney disease |
germline
unknown
|
Detail |
Pathogenic
|
2023-10-17 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
Likely pathogenic
|
2023-08-25 | criteria provided, single submitter | PKHD1-related disorder |
germline
|
Detail |
|
Pathogenic
|
2023-07-31 | criteria provided, single submitter | polycystic kidney disease 4 |
unknown
|
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.10658T>C (p.Ile3553Thr) AND Autosomal recessive polycystic kidney disease | ClinVar | Detail |
| NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) AND Inborn genetic diseases | ClinVar | Detail |
| NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) AND PKHD1-related disorder | ClinVar | Detail |
| NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) AND Polycystic kidney disease 4 | 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
- rs137852948 dbSNP
- Genome
- hg19
- Position
- chr6:51,524,266-51,524,266
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser