chr16:20333336:G>A Detail (hg38) (UMOD)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:20,344,658-20,344,658 View the variant detail on this assembly version. |
| hg38 | chr16:20,333,336-20,333,336 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001278614.1:c.2000C>T | NP_001265543.1:p.Thr667Ile |
| Ensemble | ENST00000396134.6:c.2000C>T | ENST00000396134.6:p.Thr667Ile |
| ENST00000396138.9:c.1901C>T | ENST00000396138.9:p.Thr634Ile |
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 |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2018-01-12 | no assertion criteria provided | Autosomal dominant medullary cystic kidney disease with or without hyperuricemia |
unknown
|
Detail |
|
Uncertain significance
|
2021-10-22 | criteria provided, single submitter | Familial juvenile hyperuricemic nephropathy type 1 |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_003361.4(UMOD):c.1901C>T (p.Thr634Ile) AND Autosomal dominant medullary cystic kidney disease wit... | ClinVar | Detail |
| NM_003361.4(UMOD):c.1901C>T (p.Thr634Ile) AND Familial juvenile hyperuricemic nephropathy type 1 | 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
- rs751927256 dbSNP
- Genome
- hg38
- Position
- chr16:20,333,336-20,333,336
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8220
- 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)
- 108844
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 9.187460953290949E-6
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