NM_181882.3(PRX):c.247del (p.Leu83fs) AND Charcot-Marie-Tooth disease, demyelinating, type 4F

Clinical significance:Pathogenic (Last evaluated: Aug 20, 2015)

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:
RCV000032005.1

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:
Charcot-Marie-Tooth disease, demyelinating, type 4F (CMT4F)
Synonyms:
Charcot-Marie-Tooth disease, type 4F; CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, LATE-ONSET
Identifiers:
MONDO: MONDO:0013959; MedGen: C3540453; Orphanet: 99952; OMIM: 614895

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000054714GeneReviewsno assertion criteria providedPathogenic
(Aug 20, 2015)
germlineliterature only

Citation Link

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000054714.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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