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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-05-04 | criteria provided, multiple submitters, no conflicts | Polycystic kidney disease, adult type |
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Detail |
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2023-09-11 | criteria provided, single submitter | not provided |
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Detail |
no classifications from unflagged records | 2023-11-30 | no classifications from unflagged records | autosomal dominant polycystic kidney disease |
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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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