NM_000304.4(PMP22):c.239T>G (p.Leu80Arg) 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:
RCV000790155.1

Allele description [Variation Report for NM_000304.4(PMP22):c.239T>G (p.Leu80Arg)]

NM_000304.4(PMP22):c.239T>G (p.Leu80Arg)

Gene:
PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p12
Genomic location:
Preferred name:
NM_000304.4(PMP22):c.239T>G (p.Leu80Arg)
HGVS:
  • NC_000017.11:g.15239551A>C
  • NG_007949.1:g.30777T>G
  • NM_000304.4:c.239T>GMANE SELECT
  • NM_001281455.2:c.239T>G
  • NM_001281456.2:c.239T>G
  • NM_001330143.2:c.239T>G
  • NM_153321.3:c.239T>G
  • NM_153322.3:c.239T>G
  • NP_000295.1:p.Leu80Arg
  • NP_001268384.1:p.Leu80Arg
  • NP_001268385.1:p.Leu80Arg
  • NP_001317072.1:p.Leu80Arg
  • NP_696996.1:p.Leu80Arg
  • NP_696997.1:p.Leu80Arg
  • LRG_263:g.30777T>G
  • NC_000017.10:g.15142868A>C
  • NM_000304.3:c.239T>G
  • NR_104017.2:n.334T>G
  • NR_104018.2:n.234T>G
Protein change:
L80R
Links:
dbSNP: rs1597607967
NCBI 1000 Genomes Browser:
rs1597607967
Molecular consequence:
  • NM_000304.4:c.239T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281455.2:c.239T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281456.2:c.239T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330143.2:c.239T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153321.3:c.239T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153322.3:c.239T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104017.2:n.334T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104018.2:n.234T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000929546Inherited 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

Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.

Gabreƫls-Festen A.

J Anat. 2002 Apr;200(4):341-56. Review.

PubMed [citation]
PMID:
12090401
PMCID:
PMC1570696

Details of each submission

From Inherited Neuropathy Consortium, SCV000929546.1

#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: Nov 27, 2021

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