chr14:20472356:C>T Detail (hg38) (PNP)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:20,940,515-20,940,515 View the variant detail on this assembly version. |
| hg38 | chr14:20,472,356-20,472,356 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000270.3:c.60C>T | NP_000261.2:p.His20= |
| Ensemble | ENST00000361505.10:c.60C>T | ENST00000361505.10:p.His20= |
| ENST00000553591.2:c.177C>T | ENST00000553591.2:p.His59= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.150 |
| ToMMo:0.150 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.125 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2024-01-24 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | Purine-nucleoside phosphorylase deficiency |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000270.4(PNP):c.60C>T (p.His20=) AND not specified | ClinVar | Detail |
| NM_000270.4(PNP):c.60C>T (p.His20=) AND Purine-nucleoside phosphorylase deficiency | 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
- rs1049562 dbSNP
- Genome
- hg38
- Position
- chr14:20,472,356-20,472,356
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 126.58
- Standard deviation of sample read depth (HGVD)
- 58.17
- Number of reference allele (HGVD)
- 2058
- Number of alternative allele (HGVD)
- 362
- Allele Frequency (HGVD)
- 0.14958677685950414
- Gene Symbol (HGVD)
- PNP
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs1049562
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1504
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2521
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 1080
- East Asian Heterozygous Counts (ExAC)
- 934
- East Asian Homozygous Counts (ExAC)
- 73
- East Asian Allele Frequency (ExAC)
- 0.1247977813727756
- Chromosome Counts in All Race (ExAC)
- 121402
- Allele Counts in All Race (ExAC)
- 20201
- Heterozygous Counts in All Race (ExAC)
- 16675
- Homozygous Counts in All Race (ExAC)
- 1763
- Allele Frequency in All Race (ExAC)
- 0.16639758817811898
Genome browser