NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter) AND Primary familial polycythemia due to EPO receptor mutation

Clinical significance:Pathogenic (Last evaluated: Jun 28, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000258849.1

Allele description [Variation Report for NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)]

NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)

Gene:
EPOR:erythropoietin receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)
HGVS:
  • NC_000019.10:g.11378195C>T
  • NG_021395.1:g.11148G>A
  • NM_000121.4:c.1316G>AMANE SELECT
  • NP_000112.1:p.Trp439Ter
  • NP_000112.1:p.Trp439Ter
  • NC_000019.9:g.11488871C>T
  • NM_000121.3:c.1316G>A
  • NR_033663.2:n.1673G>A
Protein change:
W439*
Links:
dbSNP: rs121917830
NCBI 1000 Genomes Browser:
rs121917830
Molecular consequence:
  • NR_033663.2:n.1673G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000121.4:c.1316G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Primary familial polycythemia due to EPO receptor mutation
Synonyms:
Familial erythrocytosis, 1; Polycythemia, primary familial and congenital; Erythrocytosis autosomal dominant benign; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007572; MedGen: C4551637; Orphanet: 90042; OMIM: 133100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000328592GeneReviewsno assertion criteria providedPathogenic
(Jun 28, 2016)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis.

de la Chapelle A, Träskelin AL, Juvonen E.

Proc Natl Acad Sci U S A. 1993 May 15;90(10):4495-9.

PubMed [citation]
PMID:
8506290
PMCID:
PMC46538

Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis.

Rives S, Pahl HL, Florensa L, Bellosillo B, Neusuess A, Estella J, Debatin KM, Kohne E, Schwarz K, Cario H.

Haematologica. 2007 May;92(5):674-7.

PubMed [citation]
PMID:
17488692

Details of each submission

From GeneReviews, SCV000328592.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 9, 2021

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