NM_181882.3(PRX):c.247del (p.Leu83fs) AND Dejerine-Sottas disease

Clinical significance:Uncertain significance

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:
RCV000789551.1

Allele description [Variation Report for NM_181882.3(PRX):c.247del (p.Leu83fs)]

NM_181882.3(PRX):c.247del (p.Leu83fs)

Gene:
PRX:periaxin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_181882.3(PRX):c.247del (p.Leu83fs)
Other names:
Arg82fsTer96
HGVS:
  • NC_000019.10:g.40398755del
  • NG_007979.1:g.19611del
  • NM_020956.2:c.247del
  • NM_181882.3:c.247delMANE SELECT
  • NP_066007.1:p.Leu83fs
  • NP_870998.2:p.Leu83fs
  • LRG_265t1:c.247del
  • LRG_265:g.19611del
  • LRG_265p1:p.Leu83fs
  • NC_000019.9:g.40904662del
  • NM_181882.2:c.247delC
  • NP_870998.2:p.Leu83CysfsTer14
Protein change:
L83fs
Links:
dbSNP: rs281865061
NCBI 1000 Genomes Browser:
rs281865061
Molecular consequence:
  • NM_020956.2:c.247del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181882.3:c.247del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Dejerine-Sottas disease
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, TYPE 3; HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III; HMSN Type III; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007790; MedGen: C0011195; Orphanet: 64748; OMIM: 145900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000928907Inherited Neuropathy Consortiumno assertion criteria providedUncertain significancegermlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

Takashima H, Boerkoel CF, De Jonghe P, Ceuterick C, Martin JJ, Voit T, Schröder JM, Williams A, Brophy PJ, Timmerman V, Lupski JR.

Ann Neurol. 2002 Jun;51(6):709-15.

PubMed [citation]
PMID:
12112076

Details of each submission

From Inherited Neuropathy Consortium, SCV000928907.1

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

Last Updated: Oct 25, 2021

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