chr10:87713151:C>G Detail (hg38) (PAPSS2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:89,472,908-89,472,908 View the variant detail on this assembly version. |
| hg38 | chr10:87,713,151-87,713,151 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004670.3:c.222C>G | NP_004661.2:p.Tyr74Ter |
| NM_001015880.1:c.222C>G | NP_001015880.1:p.Tyr74Ter | |
| Ensemble | ENST00000361175.8:c.222C>G | ENST00000361175.8:p.Tyr74Ter |
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 |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2017-04-28 | criteria provided, single submitter | brachyolmia |
germline
|
Detail |
|
Pathogenic
|
2022-08-22 | criteria provided, single submitter | Spondyloepimetaphyseal dysplasia, PAPSS2 type |
germline
|
Detail |
|
Likely pathogenic
|
2022-10-24 | criteria provided, single submitter | PAPSS2-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001015880.2(PAPSS2):c.222C>G (p.Tyr74Ter) AND Brachyolmia | ClinVar | Detail |
| NM_001015880.2(PAPSS2):c.222C>G (p.Tyr74Ter) AND Spondyloepimetaphyseal dysplasia, PAPSS2 type | ClinVar | Detail |
| NM_001015880.2(PAPSS2):c.222C>G (p.Tyr74Ter) AND PAPSS2-related disorder | 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
- rs374379931 dbSNP
- Genome
- hg38
- Position
- chr10:87,713,151-87,713,151
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8648
- 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)
- 121386
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.4714546982353814E-5
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