chr1:43815009:G>T Detail (hg19) (MPL)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:43,815,009-43,815,009 |
hg38 | chr1:43,349,338-43,349,338 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005373.2:c.1544G>T | NP_005364.1:p.Trp515Leu |
Ensemble | ENST00000372470.9:c.1544G>T | ENST00000372470.9:p.Trp515Leu |
ENST00000413998.7:c.1523G>T | ENST00000413998.7:p.Trp508Leu |
Summary
MGeND
Clinical significance |
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Variant entry | 2 |
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 | Conflicting classifications of pathogenicity |
Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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Myelodysplastic syndromes |
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MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2006-11-15 | no assertion criteria provided | Myelofibrosis with myeloid metaplasia |
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Detail |
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2006-11-15 | no assertion criteria provided | Thrombocythemia 2, somatic |
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Detail |
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2014-12-26 | no assertion criteria provided | Hematologic neoplasm |
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Detail |
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2016-10-14 | criteria provided, single submitter | congenital amegakaryocytic thrombocytopenia |
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Detail |
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2023-06-23 | criteria provided, single submitter | congenital amegakaryocytic thrombocytopenia |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.289 | Thrombocythemia, Essential | We developed a novel multiplexed allele-specific PCR assay capable of detecting ... | BeFree | 23994117 | Detail |
0.248 | Thrombocythemia, Essential | To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential t... | BeFree | 20113333 | Detail |
0.003 | Primary myelofibrosis | To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential t... | BeFree | 20113333 | Detail |
0.051 | Primary myelofibrosis | We developed a novel multiplexed allele-specific PCR assay capable of detecting ... | BeFree | 23994117 | Detail |
<0.001 | Primary myelofibrosis | DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane ... | BeFree | 16834459 | Detail |
0.009 | polycythemia vera | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... | BeFree | 19843380 | Detail |
0.008 | Chronic myeloproliferative disorder | Rapid real-time PCR assay for detection of MPL W515L mutation in patients with c... | BeFree | 19016916 | Detail |
0.051 | Primary myelofibrosis | Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the rece... | BeFree | 18669880 | Detail |
0.051 | Primary myelofibrosis | Histopathological categories ET and prefibrotic PMF correlate with significant d... | BeFree | 19616600 | Detail |
0.051 | Primary myelofibrosis | Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the rece... | BeFree | 19274616 | Detail |
<0.001 | myelodysplastic syndrome | We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplasti... | BeFree | 18479730 | Detail |
<0.001 | anemia | When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, t... | BeFree | 17408465 | Detail |
0.289 | Thrombocythemia, Essential | The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W5... | BeFree | 17920754 | Detail |
0.289 | Thrombocythemia, Essential | One patient with the MPL W515L was identified with a clinical picture of ET. | BeFree | 25637689 | Detail |
0.008 | Chronic myeloproliferative disorder | Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that ... | BeFree | 18479730 | Detail |
0.289 | Thrombocythemia, Essential | The activating W515L mutation in the thrombopoietin receptor (MPL) has been iden... | BeFree | 19261614 | Detail |
0.051 | Primary myelofibrosis | Screening and monitoring of MPL W515L mutation with real-time PCR in patients wi... | BeFree | 20062088 | Detail |
0.364 | myelofibrosis | NA | CLINVAR | Detail | |
0.248 | Thrombocythemia, Essential | Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the rece... | BeFree | 18669880 | Detail |
<0.001 | Down syndrome | In three cases (25%), MPL(W515L) was found and in two of these a combination wit... | BeFree | 19194467 | Detail |
0.051 | Primary myelofibrosis | Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myel... | BeFree | 17709604 | Detail |
0.037 | Myeloproliferative disease | To investigate its prevalence in Chinese patients with MPD, we introduced allele... | BeFree | 18464114 | Detail |
0.002 | Myeloproliferative disease | As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive ... | BeFree | 18464114 | Detail |
0.352 | Myeloproliferative disease | As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive ... | BeFree | 18464114 | Detail |
0.004 | polycythemia vera | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... | BeFree | 19843380 | Detail |
0.051 | Primary myelofibrosis | MPL W515L mutation was found to be harbored in only one of 102 patients, who had... | BeFree | 18464114 | Detail |
0.352 | Myeloproliferative disease | Scanning of JAK2 exons 12-25 and MPL exon 10 revealed the presence of JAK2 alter... | BeFree | 19643476 | Detail |
0.139 | thrombocytosis | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... | BeFree | 19843380 | Detail |
0.462 | Thrombocythemia, Essential | Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MP... | BeFree | 21228032 | Detail |
0.364 | myelofibrosis | Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myel... | BeFree | 17709604 | Detail |
0.008 | Thrombocythemia, Essential | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... | BeFree | 19843380 | Detail |
0.289 | Thrombocythemia, Essential | Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the rece... | BeFree | 19274616 | Detail |
0.001 | anemia | When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, t... | BeFree | 17408465 | Detail |
0.289 | Thrombocythemia, Essential | MPL W515L mutation was found to be harbored in only one of 102 patients, who had... | BeFree | 18464114 | Detail |
0.364 | myelofibrosis | DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane ... | BeFree | 16834459 | Detail |
0.005 | leukemia | We conclude that MPL(W515L) occurs in a considerable proportion of acute megakar... | BeFree | 19194467 | Detail |
0.120 | Thrombocythemia 2 | MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid me... | UNIPROT | 16834459 | Detail |
0.008 | Chronic myeloproliferative disorder | MPL W515L/K mutations in 343 Chinese adults with JAK2V617F mutation-negative chr... | BeFree | 19274616 | Detail |
<0.001 | Chronic myeloproliferative disorder | Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that ... | BeFree | 18479730 | Detail |
0.005 | Thrombocythemia, Essential | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... | BeFree | 19843380 | Detail |
0.046 | Chronic myeloproliferative disorder | Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that ... | BeFree | 18479730 | Detail |
0.289 | Thrombocythemia, Essential | MPL(W515L) was found in 3% of ET and 8% of PMF, with a significantly higher perc... | BeFree | 19616600 | Detail |
0.248 | Thrombocythemia, Essential | Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the rece... | BeFree | 19274616 | Detail |
0.289 | Thrombocythemia, Essential | MPL W515L mutation in pediatric essential thrombocythemia. | BeFree | 23441089 | Detail |
<0.001 | Chronic myeloproliferative disorder | Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that ... | BeFree | 18479730 | Detail |
0.146 | polycythemia vera | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... | BeFree | 19843380 | Detail |
0.289 | Thrombocythemia, Essential | JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocy... | BeFree | 20890078 | Detail |
<0.001 | Chronic myeloproliferative disorder | Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the rece... | BeFree | 18669880 | Detail |
0.051 | Primary myelofibrosis | The other three cases of PMF with 1p uniparental disomy had point mutations of t... | BeFree | 18723266 | Detail |
0.164 | thrombocytosis | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... | BeFree | 19843380 | Detail |
0.289 | Thrombocythemia, Essential | Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the rece... | BeFree | 18669880 | Detail |
0.051 | Primary myelofibrosis | We conclude that MPL(W515L) occurs in a considerable proportion of acute megakar... | BeFree | 19194467 | Detail |
0.051 | Primary myelofibrosis | The activating W515L mutation in the thrombopoietin receptor (MPL) has been iden... | BeFree | 19261614 | Detail |
0.008 | Chronic myeloproliferative disorder | Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the rece... | BeFree | 18669880 | Detail |
0.146 | polycythemia vera | MPL W515L mutation was found to be harbored in only one of 102 patients, who had... | BeFree | 18464114 | Detail |
0.051 | Primary myelofibrosis | DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane ... | BeFree | 16834459 | Detail |
<0.001 | Preleukemia | We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplasti... | BeFree | 18479730 | Detail |
0.003 | Myeloid Leukemia, Chronic | MPL W515L mutation was found to be harbored in only one of 102 patients, who had... | BeFree | 18464114 | Detail |
0.364 | myelofibrosis | We conclude that MPL(W515L) occurs in a considerable proportion of acute megakar... | BeFree | 19194467 | Detail |
<0.001 | myelofibrosis | DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane ... | BeFree | 16834459 | Detail |
0.462 | Thrombocythemia, Essential | JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocy... | BeFree | 20890078 | Detail |
0.364 | myelofibrosis | Screening and monitoring of MPL W515L mutation with real-time PCR in patients wi... | BeFree | 20062088 | Detail |
0.003 | Primary myelofibrosis | Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the rece... | BeFree | 19274616 | Detail |
0.003 | Primary myelofibrosis | Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the rece... | BeFree | 18669880 | Detail |
0.462 | Thrombocythemia, Essential | The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W5... | BeFree | 17920754 | Detail |
0.289 | Thrombocythemia, Essential | Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MP... | BeFree | 21228032 | Detail |
0.002 | thrombocytosis | In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... | BeFree | 19843380 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) AND Myelofibrosis with myeloid metaplasia | ClinVar | Detail |
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) AND Thrombocythemia 2, somatic | ClinVar | Detail |
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) AND Hematologic neoplasm | ClinVar | Detail |
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) AND Congenital amegakaryocytic thrombocytopenia | ClinVar | Detail |
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) AND multiple conditions | ClinVar | Detail |
We developed a novel multiplexed allele-specific PCR assay capable of detecting most recurrent MPL e... | DisGeNET | Detail |
To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) ... | DisGeNET | Detail |
To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) ... | DisGeNET | Detail |
We developed a novel multiplexed allele-specific PCR assay capable of detecting most recurrent MPL e... | DisGeNET | Detail |
DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL... | DisGeNET | Detail |
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... | DisGeNET | Detail |
Rapid real-time PCR assay for detection of MPL W515L mutation in patients with chronic myeloprolifer... | DisGeNET | Detail |
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoie... | DisGeNET | Detail |
Histopathological categories ET and prefibrotic PMF correlate with significant differences in mutant... | DisGeNET | Detail |
Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoie... | DisGeNET | Detail |
We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplastic syndrome who had a... | DisGeNET | Detail |
When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, those with MPL(W515L/... | DisGeNET | Detail |
The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W515L/K), have been id... | DisGeNET | Detail |
One patient with the MPL W515L was identified with a clinical picture of ET. | DisGeNET | Detail |
Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that seen in chronic myel... | DisGeNET | Detail |
The activating W515L mutation in the thrombopoietin receptor (MPL) has been identified in primary my... | DisGeNET | Detail |
Screening and monitoring of MPL W515L mutation with real-time PCR in patients with myelofibrosis und... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoie... | DisGeNET | Detail |
In three cases (25%), MPL(W515L) was found and in two of these a combination with trisomy 21 or the ... | DisGeNET | Detail |
Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis. | DisGeNET | Detail |
To investigate its prevalence in Chinese patients with MPD, we introduced allele-specific PCR (AS-PC... | DisGeNET | Detail |
As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive cytokine-independent... | DisGeNET | Detail |
As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive cytokine-independent... | DisGeNET | Detail |
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... | DisGeNET | Detail |
MPL W515L mutation was found to be harbored in only one of 102 patients, who had essential thrombocy... | DisGeNET | Detail |
Scanning of JAK2 exons 12-25 and MPL exon 10 revealed the presence of JAK2 alterations in six and MP... | DisGeNET | Detail |
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... | DisGeNET | Detail |
Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MPL (W515L). | DisGeNET | Detail |
Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis. | DisGeNET | Detail |
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... | DisGeNET | Detail |
Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoie... | DisGeNET | Detail |
When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, those with MPL(W515L/... | DisGeNET | Detail |
MPL W515L mutation was found to be harbored in only one of 102 patients, who had essential thrombocy... | DisGeNET | Detail |
DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL... | DisGeNET | Detail |
We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias... | DisGeNET | Detail |
MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. | DisGeNET | Detail |
MPL W515L/K mutations in 343 Chinese adults with JAK2V617F mutation-negative chronic myeloproliferat... | DisGeNET | Detail |
Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that seen in chronic myel... | DisGeNET | Detail |
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... | DisGeNET | Detail |
Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that seen in chronic myel... | DisGeNET | Detail |
MPL(W515L) was found in 3% of ET and 8% of PMF, with a significantly higher percentage of mutated al... | DisGeNET | Detail |
Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoie... | DisGeNET | Detail |
MPL W515L mutation in pediatric essential thrombocythemia. | DisGeNET | Detail |
Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that seen in chronic myel... | DisGeNET | Detail |
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... | DisGeNET | Detail |
JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia. | DisGeNET | Detail |
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoie... | DisGeNET | Detail |
The other three cases of PMF with 1p uniparental disomy had point mutations of the MPL gene, either ... | DisGeNET | Detail |
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... | DisGeNET | Detail |
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoie... | DisGeNET | Detail |
We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias... | DisGeNET | Detail |
The activating W515L mutation in the thrombopoietin receptor (MPL) has been identified in primary my... | DisGeNET | Detail |
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoie... | DisGeNET | Detail |
MPL W515L mutation was found to be harbored in only one of 102 patients, who had essential thrombocy... | DisGeNET | Detail |
DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL... | DisGeNET | Detail |
We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplastic syndrome who had a... | DisGeNET | Detail |
MPL W515L mutation was found to be harbored in only one of 102 patients, who had essential thrombocy... | DisGeNET | Detail |
We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias... | DisGeNET | Detail |
DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL... | DisGeNET | Detail |
JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia. | DisGeNET | Detail |
Screening and monitoring of MPL W515L mutation with real-time PCR in patients with myelofibrosis und... | DisGeNET | Detail |
Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoie... | DisGeNET | Detail |
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoie... | DisGeNET | Detail |
The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W515L/K), have been id... | DisGeNET | Detail |
Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MPL (W515L). | DisGeNET | Detail |
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... | 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
- rs121913615 dbSNP
- Genome
- hg19
- Position
- chr1:43,815,009-43,815,009
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- 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)
- 121210
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6500288755053215E-5
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