chr1:43814979:G>A Detail (hg19) (MPL)

Information

Genome

Assembly Position
hg19 chr1:43,814,979-43,814,979
hg38 chr1:43,349,308-43,349,308 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005373.2:c.1514G>A NP_005364.1:p.Ser505Asn
Ensemble ENST00000413998.7:c.1493G>A ENST00000413998.7:p.Ser498Asn
ENST00000372470.9:c.1514G>A ENST00000372470.9:p.Ser505Asn
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 COSM4383481 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2009-10-08 no assertion criteria provided Thrombocythemia 2 germline Detail
Likely pathogenic 2014-10-02 no assertion criteria provided myeloproliferative neoplasm somatic Detail
Likely pathogenic 2014-10-02 no assertion criteria provided Primary myelofibrosis somatic Detail
Likely pathogenic 2014-10-02 no assertion criteria provided Thrombocythemia 1 somatic Detail
Pathogenic 2021-06-17 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.139 thrombocytosis Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigre... BeFree 19608689 Detail
0.051 Primary myelofibrosis Conclusions Patients with familial thrombocytosis caused by a MPL(Ser505Asn) mut... BeFree 19713221 Detail
0.364 myelofibrosis Conclusions Patients with familial thrombocytosis caused by a MPL(Ser505Asn) mut... BeFree 19713221 Detail
0.289 Thrombocythemia, Essential We developed a novel multiplexed allele-specific PCR assay capable of detecting ... BeFree 23994117 Detail
0.120 Thrombocythemia 2 Familial essential thrombocythemia associated with a dominant-positive activatin... UNIPROT 14764528 Detail
0.139 thrombocytosis A unique point mutation, serine 505 to asparagine 505 (Ser505Asn), was identifie... BeFree 14764528 Detail
0.248 Thrombocythemia, Essential To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential t... BeFree 20113333 Detail
0.139 thrombocytosis Background The MPL(Ser505Asn) mutation has been reported to be a cause of heredi... BeFree 19713221 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
Annotation

Annotations

DescrptionSourceLinks
NM_005373.3(MPL):c.1514G>A (p.Ser505Asn) AND Thrombocythemia 2 ClinVar Detail
NM_005373.3(MPL):c.1514G>A (p.Ser505Asn) AND Myeloproliferative neoplasm ClinVar Detail
NM_005373.3(MPL):c.1514G>A (p.Ser505Asn) AND Primary myelofibrosis ClinVar Detail
NM_005373.3(MPL):c.1514G>A (p.Ser505Asn) AND Thrombocythemia 1 ClinVar Detail
NM_005373.3(MPL):c.1514G>A (p.Ser505Asn) AND not provided ClinVar Detail
Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary t... DisGeNET Detail
Conclusions Patients with familial thrombocytosis caused by a MPL(Ser505Asn) mutation have a high ri... DisGeNET Detail
Conclusions Patients with familial thrombocytosis caused by a MPL(Ser505Asn) mutation have a high ri... DisGeNET Detail
We developed a novel multiplexed allele-specific PCR assay capable of detecting most recurrent MPL e... DisGeNET Detail
Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-... DisGeNET Detail
A unique point mutation, serine 505 to asparagine 505 (Ser505Asn), was identified in the transmembra... DisGeNET Detail
To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) ... DisGeNET Detail
Background The MPL(Ser505Asn) mutation has been reported to be a cause of hereditary thrombocythemia... 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

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
rs121913614 dbSNP
Genome
hg19
Position
chr1:43,814,979-43,814,979
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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