NM_000166.6(GJB1):c.383C>G (p.Ser128Ter) 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:
RCV000789316.1

Allele description [Variation Report for NM_000166.6(GJB1):c.383C>G (p.Ser128Ter)]

NM_000166.6(GJB1):c.383C>G (p.Ser128Ter)

Gene:
GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_000166.6(GJB1):c.383C>G (p.Ser128Ter)
HGVS:
  • NC_000023.11:g.71224090C>G
  • NG_008357.1:g.13879C>G
  • NM_000166.6:c.383C>GMANE SELECT
  • NM_001097642.3:c.383C>G
  • NP_000157.1:p.Ser128Ter
  • NP_001091111.1:p.Ser128Ter
  • LRG_245t2:c.383C>G
  • LRG_245:g.13879C>G
  • LRG_245p2:p.Ser128Ter
  • NC_000023.10:g.70443940C>G
  • NM_000166.5:c.383C>G
Protein change:
S128*
Links:
dbSNP: rs1602349272
NCBI 1000 Genomes Browser:
rs1602349272
Molecular consequence:
  • NM_000166.6:c.383C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001097642.3:c.383C>G - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000928669Inherited 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

Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.

Mostacciuolo ML, Righetti E, Zortea M, Bosello V, Schiavon F, Vallo L, Merlini L, Siciliano G, Fabrizi GM, Rizzuto N, Milani M, Baratta S, Taroni F.

Hum Mutat. 2001;18(1):32-41.

PubMed [citation]
PMID:
11438991

Details of each submission

From Inherited Neuropathy Consortium, SCV000928669.1

#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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