NM_000166.6(GJB1):c.355G>T (p.Glu119Ter) 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:
RCV000789305.1

Allele description [Variation Report for NM_000166.6(GJB1):c.355G>T (p.Glu119Ter)]

NM_000166.6(GJB1):c.355G>T (p.Glu119Ter)

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.355G>T (p.Glu119Ter)
HGVS:
  • NC_000023.11:g.71224062G>T
  • NG_008357.1:g.13851G>T
  • NM_000166.6:c.355G>TMANE SELECT
  • NM_001097642.3:c.355G>T
  • NP_000157.1:p.Glu119Ter
  • NP_001091111.1:p.Glu119Ter
  • LRG_245t2:c.355G>T
  • LRG_245:g.13851G>T
  • LRG_245p2:p.Glu119Ter
  • NC_000023.10:g.70443912G>T
  • NM_000166.5:c.355G>T
Protein change:
E119*
Links:
dbSNP: rs1602349226
NCBI 1000 Genomes Browser:
rs1602349226
Molecular consequence:
  • NM_000166.6:c.355G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001097642.3:c.355G>T - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000928658Inherited 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

CMT1X phenotypes represent loss of GJB1 gene function.

Shy ME, Siskind C, Swan ER, Krajewski KM, Doherty T, Fuerst DR, Ainsworth PJ, Lewis RA, Scherer SS, Hahn AF.

Neurology. 2007 Mar 13;68(11):849-55.

PubMed [citation]
PMID:
17353473

Details of each submission

From Inherited Neuropathy Consortium, SCV000928658.1

#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

Support Center