NM_000530.8(MPZ):c.411C>T (p.Gly137=) 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:
RCV000789490.1

Allele description [Variation Report for NM_000530.8(MPZ):c.411C>T (p.Gly137=)]

NM_000530.8(MPZ):c.411C>T (p.Gly137=)

Gene:
MPZ:myelin protein zero [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.3
Genomic location:
Preferred name:
NM_000530.8(MPZ):c.411C>T (p.Gly137=)
HGVS:
  • NC_000001.11:g.161306745G>A
  • NG_008055.1:g.8228C>T
  • NM_000530.8:c.411C>TMANE SELECT
  • NM_001315491.2:c.411C>T
  • NP_000521.2:p.Gly137=
  • NP_001302420.1:p.Gly137=
  • LRG_256t1:c.411C>T
  • LRG_256:g.8228C>T
  • NC_000001.10:g.161276535G>A
  • NM_000530.6:c.411C>T
Links:
dbSNP: rs1558153994
NCBI 1000 Genomes Browser:
rs1558153994
Molecular consequence:
  • NM_000530.8:c.411C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001315491.2:c.411C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000928846Inherited 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

Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene.

Taioli F, Cabrini I, Cavallaro T, Simonati A, Testi S, Fabrizi GM.

J Peripher Nerv Syst. 2011 Mar;16(1):59-64. doi: 10.1111/j.1529-8027.2011.00319.x.

PubMed [citation]
PMID:
21504504

Details of each submission

From Inherited Neuropathy Consortium, SCV000928846.1

#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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