NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) AND Charcot-Marie-Tooth 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:
RCV000789431.1

Allele description [Variation Report for NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)]

NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)

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.670G>T (p.Asp224Tyr)
HGVS:
  • NC_000001.11:g.161305953C>A
  • NG_008055.1:g.9020G>T
  • NM_000530.8:c.670G>TMANE SELECT
  • NM_001315491.2:c.670G>T
  • NP_000521.2:p.Asp224Tyr
  • NP_001302420.1:p.Asp224Tyr
  • LRG_256t1:c.670G>T
  • LRG_256:g.9020G>T
  • LRG_256p1:p.Asp224Tyr
  • NC_000001.10:g.161275743C>A
  • NM_000530.5:c.700G>T
  • NM_000530.6:c.670G>T
  • P25189:p.Asp224Tyr
Protein change:
D224Y
Links:
UniProtKB: P25189#VAR_054397; dbSNP: rs267607247
NCBI 1000 Genomes Browser:
rs267607247
Molecular consequence:
  • NM_000530.8:c.670G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001315491.2:c.670G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000928786Inherited 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

Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.

Fabrizi GM, Pellegrini M, Angiari C, Cavallaro T, Morini A, Taioli F, Cabrini I, Orrico D, Rizzuto N.

Neuromuscul Disord. 2006 Mar;16(3):183-7. Epub 2006 Feb 20.

PubMed [citation]
PMID:
16488608

Details of each submission

From Inherited Neuropathy Consortium, SCV000928786.1

#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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