NM_000530.8(MPZ):c.410G>A (p.Gly137Asp) AND Charcot-Marie-Tooth disease, demyelinating, type 1b

Clinical significance:Pathogenic (Last evaluated: Sep 3, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000201196.1

Allele description [Variation Report for NM_000530.8(MPZ):c.410G>A (p.Gly137Asp)]

NM_000530.8(MPZ):c.410G>A (p.Gly137Asp)

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.410G>A (p.Gly137Asp)
HGVS:
  • NC_000001.11:g.161306746C>T
  • NG_008055.1:g.8227G>A
  • NM_000530.8:c.410G>AMANE SELECT
  • NM_001315491.2:c.410G>A
  • NP_000521.2:p.Gly137Asp
  • NP_001302420.1:p.Gly137Asp
  • LRG_256t1:c.410G>A
  • LRG_256:g.8227G>A
  • NC_000001.10:g.161276536C>T
Protein change:
G137D
Links:
dbSNP: rs863225025
NCBI 1000 Genomes Browser:
rs863225025
Molecular consequence:
  • NM_000530.8:c.410G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001315491.2:c.410G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease, demyelinating, type 1b (CMT1B)
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1B; CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, LINKED TO DUFFY; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007307; MedGen: C0270912; Orphanet: 101082; OMIM: 118200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000255802Athena Diagnostics Inccriteria provided, single submitter
Pathogenic
(Sep 3, 2015)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies.

Østern R, Fagerheim T, Hjellnes H, Nygård B, Mellgren SI, Nilssen Ø.

BMC Med Genet. 2013 Sep 21;14:94. doi: 10.1186/1471-2350-14-94.

PubMed [citation]
PMID:
24053775
PMCID:
PMC3849068

Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations.

Østern R, Fagerheim T, Hjellnes H, Nygård B, Mellgren SI, Nilssen Ø.

BMC Med Genet. 2014 Jan 21;15:12. doi: 10.1186/1471-2350-15-12.

PubMed [citation]
PMID:
24444136
PMCID:
PMC3900263
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics Inc, SCV000255802.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2020

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