chr20:948667:T>C Detail (hg19) (RSPO4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr20:948,667-948,667 |
| hg38 | chr20:968,024-968,024 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001029871.3:c.194A>G | NP_001025042.2:p.Gln65Arg |
| NM_001040007.2:c.194A>G | NP_001035096.1:p.Gln65Arg | |
| Ensemble | ENST00000217260.9:c.194A>G | ENST00000217260.9:p.Gln65Arg |
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
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2006-11-01 | no assertion criteria provided | Anonychia |
germline
|
Detail |
CIViC
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001029871.4(RSPO4):c.194A>G (p.Gln65Arg) AND Anonychia | 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
- rs74315420 dbSNP
- Genome
- hg19
- Position
- chr20:948,667-948,667
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8590
- 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)
- 120266
- Allele Counts in All Race (ExAC)
- 8
- Heterozygous Counts in All Race (ExAC)
- 8
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 6.651921573844644E-5
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