NM_000166.6(GJB1):c.617dup (p.Ala207fs) 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:
RCV000789291.1

Allele description [Variation Report for NM_000166.6(GJB1):c.617dup (p.Ala207fs)]

NM_000166.6(GJB1):c.617dup (p.Ala207fs)

Gene:
GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_000166.6(GJB1):c.617dup (p.Ala207fs)
HGVS:
  • NC_000023.11:g.71224324dup
  • NG_008357.1:g.14113dup
  • NM_000166.6:c.617dupMANE SELECT
  • NM_001097642.3:c.617dup
  • NP_000157.1:p.Ala207fs
  • NP_001091111.1:p.Ala207fs
  • LRG_245t2:c.617dup
  • LRG_245:g.14113dup
  • LRG_245p2:p.Ala207fs
  • NC_000023.10:g.70444174dup
  • NM_000166.5:c.617dupT
Protein change:
A207fs
Links:
dbSNP: rs1602349763
NCBI 1000 Genomes Browser:
rs1602349763
Molecular consequence:
  • NM_000166.6:c.617dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001097642.3:c.617dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000928644Inherited 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

X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).

Senderek J, Hermanns B, Bergmann C, Boroojerdi B, Bajbouj M, Hungs M, Ramaekers VT, Quasthoff S, Karch D, Schröder JM.

J Neurol Sci. 1999 Aug 15;167(2):90-101.

PubMed [citation]
PMID:
10521546

Details of each submission

From Inherited Neuropathy Consortium, SCV000928644.1

#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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