NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) AND Charcot-Marie-Tooth disease, demyelinating, type 1b

Clinical significance:Pathogenic (Last evaluated: Mar 26, 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:
RCV000033921.1

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, 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
SCV000057838GeneReviewsno assertion criteria providedPathogenic
(Mar 26, 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, SCV000057838.1

#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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