chr1:43815008:TG>AA Detail (hg19) (MPL)

Information

Genome

Assembly Position
hg19 chr1:43,815,008-43,815,009
hg38 chr1:43,349,337-43,349,338 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005373.2:c.1543_1544delinsAA NP_005364.1:p.Trp515Lys
Ensemble ENST00000372470.9:c.1543_1544delinsAA ENST00000372470.9:p.Trp515Lys
ENST00000413998.7:c.1522_1523delinsAA ENST00000413998.7:p.Trp508Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 159530 OMIM
HGNC 7217 HGNC
Ensembl ENSG00000117400 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM19193 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2006-11-15 no assertion criteria provided Myelofibrosis with myeloid metaplasia somatic 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
0.009 polycythemia vera In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 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 Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the rece... BeFree 19274616 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
0.004 polycythemia vera In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.139 thrombocytosis In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 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
0.005 Thrombocythemia, Essential In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.248 Thrombocythemia, Essential Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the rece... BeFree 19274616 Detail
0.146 polycythemia vera In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
<0.001 Chronic myeloproliferative disorder Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the rece... BeFree 18669880 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
0.008 Chronic myeloproliferative disorder Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the rece... BeFree 18669880 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
0.002 thrombocytosis In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.294 Primary myelofibrosis Mutations of JAK2(V617F) or MPL(W515K/L) were absent in pediatric patients with ... BeFree 25176567 Detail
0.037 Myeloproliferative disease The thrombopoietin receptor gene (MPL) is expressed in megakaryocytes and exhibi... BeFree 19194467 Detail
0.008 Chronic myeloproliferative disorder The thrombopoietin receptor gene (MPL) is expressed in megakaryocytes and exhibi... BeFree 19194467 Detail
0.051 Primary myelofibrosis In order to identify novel somatic mutations associated with classic BCR/ABL1-ne... BeFree 23872309 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005373.3(MPL):c.1543_1544delinsAA (p.Trp515Lys) AND Myelofibrosis with myeloid metaplasia 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
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
Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoie... DisGeNET Detail
NA DisGeNET Detail
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoie... DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... 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
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
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
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
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoie... 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
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
Mutations of JAK2(V617F) or MPL(W515K/L) were absent in pediatric patients with PMF according to pre... DisGeNET Detail
The thrombopoietin receptor gene (MPL) is expressed in megakaryocytes and exhibits the gain of funct... DisGeNET Detail
The thrombopoietin receptor gene (MPL) is expressed in megakaryocytes and exhibits the gain of funct... DisGeNET Detail
In order to identify novel somatic mutations associated with classic BCR/ABL1-negative myeloprolifer... 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
rs121913616 dbSNP
Genome
hg19
Position
chr1:43,815,008-43,815,009
Variant Type
snv
Reference Allele
TG
Alternative Allele
AA
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