NM_005373.3(MPL):c.305G>A (p.Arg102His) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 1, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001270587.2

Allele description [Variation Report for NM_005373.3(MPL):c.305G>A (p.Arg102His)]

NM_005373.3(MPL):c.305G>A (p.Arg102His)

Gene:

MPL:MPL proto-oncogene, thrombopoietin receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

Preferred name:

NM_005373.3(MPL):c.305G>A (p.Arg102His)

HGVS:

NC_000001.11:g.43338634G>A
NG_007525.1:g.5831G>A
NM_005373.3:c.305G>AMANE SELECT
NP_005364.1:p.Arg102His
LRG_510t1:c.305G>A
LRG_510:g.5831G>A
NC_000001.10:g.43804305G>A
NM_005373.2:c.305G>A

Protein change:

R102H

Links:

dbSNP: rs28928907

NCBI 1000 Genomes Browser:

rs28928907

Molecular consequence:

NM_005373.3:c.305G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Abnormal bleeding
Identifiers:: MedGen: C1458140; Human Phenotype Ontology: HP:0001892

Name:: Thrombocytopenia
Identifiers:: MONDO: MONDO:0002049; MeSH: D013921; MedGen: C0040034; Human Phenotype Ontology: HP:0001873

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Kuhlia sandvicensis from USA cytochrome b (cytb) gene, partial cds; mitochondria...
Kuhlia sandvicensis from USA cytochrome b (cytb) gene, partial cds; mitochondrial gene for mitochondrial product
gi|34013850|gb|AY359442.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001450886	Birmingham Platelet Group; University of Birmingham	no assertion criteria provided	Uncertain significance (May 1, 2020)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001450886

Birmingham Platelet Group; University of Birmingham

no assertion criteria provided

Uncertain significance
(May 1, 2020)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Birmingham Platelet Group; University of Birmingham, SCV001450886.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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