NM_000311.4(PRNP):c.598G>A (p.Glu200Lys) AND Genetic prion diseases

Clinical significance:Pathogenic (Last evaluated: Dec 18, 2008)

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:
RCV000020253.1

Allele description [Variation Report for NM_000311.4(PRNP):c.598G>A (p.Glu200Lys)]

NM_000311.4(PRNP):c.598G>A (p.Glu200Lys)

Gene:
PRNP:prion protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p13
Genomic location:
Preferred name:
NM_000311.4(PRNP):c.598G>A (p.Glu200Lys)
HGVS:
  • NC_000020.11:g.4699818G>A
  • NG_009087.1:g.18668G>A
  • NM_000311.4:c.598G>A
  • NM_001271561.1:c.*287G>A
  • NP_000302.1:p.Glu200Lys
  • NC_000020.10:g.4680464G>A
  • NM_000311.3:c.598G>A
  • P04156:p.Glu200Lys
Protein change:
E200K; GLU200LYS
Links:
UniProtKB: P04156#VAR_006473; OMIM: 176640.0006; dbSNP: rs28933385
NCBI 1000 Genomes Browser:
rs28933385
Molecular consequence:
  • NM_001271561.1:c.*287G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000311.4:c.598G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Genetic prion diseases
Identifiers:
MedGen: C0162534

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000040607GeneReviewsno assertion criteria providedpathologic
(Dec 18, 2008)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000040607.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Jul 2, 2019

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