chr19:13054628:>TTGTC Detail (hg19) (CALR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:13,054,628-13,054,628 |
| hg38 | chr19:12,943,814-12,943,814 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004343.3:c.1154_1155insTTGTC | NP_004334.1:p.Lys385AsnfsTer47 |
| Ensemble | ENST00000316448.10:c.1154_1155insTTGTC | ENST00000316448.10:p.Lys385AsnfsTer47 |
| ENST00000586760.2:c.1097+57_1097+58insTTGTC |
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
|
2020-03-24 | criteria provided, single submitter | Thrombocythemia 1 |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004343.4(CALR):c.1154_1155insTTGTC (p.Lys385fs) AND Thrombocythemia 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
- rs765476509 dbSNP
- Genome
- hg19
- Position
- chr19:13,054,628-13,054,628
- Variant Type
- snv
- Reference Allele
- -
- Alternative Allele
- TTGTC
- East Asian Chromosome Counts (ExAC)
- 3150
- 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)
- 52290
- Allele Counts in All Race (ExAC)
- 4
- Heterozygous Counts in All Race (ExAC)
- 4
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 7.649646203863071E-5
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