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NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) AND Charcot-Marie-Tooth disease

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000789688.9

Allele description [Variation Report for NM_000530.8(MPZ):c.347A>G (p.Asn116Ser)]

NM_000530.8(MPZ):c.347A>G (p.Asn116Ser)

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.347A>G (p.Asn116Ser)
HGVS:
  • NC_000001.11:g.161306809T>C
  • NG_008055.1:g.8164A>G
  • NM_000530.8:c.347A>GMANE SELECT
  • NM_001315491.2:c.347A>G
  • NP_000521.2:p.Asn116Ser
  • NP_001302420.1:p.Asn116Ser
  • LRG_256t1:c.347A>G
  • LRG_256:g.8164A>G
  • LRG_256p1:p.Asn116Ser
  • NC_000001.10:g.161276599T>C
  • NM_000530.5:c.377A>G
  • NM_000530.6:c.347A>G
Protein change:
N116S
Links:
dbSNP: rs281865130
NCBI 1000 Genomes Browser:
rs281865130
Molecular consequence:
  • NM_000530.8:c.347A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001315491.2:c.347A>G - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000929063Inherited Neuropathy Consortium
no assertion criteria provided
Uncertain significancegermlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Four novel mutations of the myelin protein zero gene presenting as a mild and late-onset polyneuropathy.

Kleffner I, Schirmacher A, Gess B, Boentert M, Young P.

J Neurol. 2010 Nov;257(11):1864-8. doi: 10.1007/s00415-010-5624-2. Epub 2010 Jun 18.

PubMed [citation]
PMID:
20556410

Details of each submission

From Inherited Neuropathy Consortium, SCV000929063.1

#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: Oct 26, 2024