chr3:46902543:C>T Detail (hg38) (PTH1R)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:46,944,033-46,944,033 View the variant detail on this assembly version. |
| hg38 | chr3:46,902,543-46,902,543 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001184744.1:c.1229C>T | NP_001171673.1:p.Thr410Met |
| NM_000316.2:c.1229C>T | NP_000307.1:p.Thr410Met | |
| Ensemble | ENST00000313049.9:c.1229C>T | ENST00000313049.9:p.Thr410Met |
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 | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.480 | Jansen type metaphyseal chondrodysplasia | NA | CLINVAR | Detail |
Annotation
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
- -
- Genome
- hg38
- Position
- chr3:46,902,543-46,902,543
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 7914
- 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)
- 108606
- 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)
- 9.207594423880816E-6
Genome browser