chr16:2099955:G>A Detail (hg38) (PKD1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:2,149,956-2,149,956 View the variant detail on this assembly version. |
| hg38 | chr16:2,099,955-2,099,955 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001009944.2:c.9829C>T | NP_001009944.2:p.Arg3277Cys |
| NM_000296.3:c.9829C>T | NP_000287.3:p.Arg3277Cys | |
| Ensemble | ENST00000262304.9:c.9829C>T | ENST00000262304.9:p.Arg3277Cys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
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
|
2022-05-04 | criteria provided, multiple submitters, no conflicts | Polycystic kidney disease, adult type |
germline
unknown
|
Detail |
|
Likely pathogenic
|
2023-09-11 | criteria provided, single submitter | not provided |
germline
|
Detail |
| no classifications from unflagged records | 2023-11-30 | no classifications from unflagged records | autosomal dominant polycystic kidney disease |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.347 | Polycystic Kidney, Autosomal Dominant | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) AND Polycystic kidney disease, adult type | ClinVar | Detail |
| NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) AND not provided | ClinVar | Detail |
| NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) AND Autosomal dominant polycystic kidney disease | 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
- rs148812376 dbSNP
- Genome
- hg38
- Position
- chr16:2,099,955-2,099,955
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 902
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 22104
- Allele Counts in All Race (ExAC)
- 4
- Heterozygous Counts in All Race (ExAC)
- 4
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.8096272167933406E-4
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