NM_000166.6(GJB1):c.225del (p.Leu76fs) 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:
RCV000789840.1

Allele description [Variation Report for NM_000166.6(GJB1):c.225del (p.Leu76fs)]

NM_000166.6(GJB1):c.225del (p.Leu76fs)

Gene:
GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_000166.6(GJB1):c.225del (p.Leu76fs)
HGVS:
  • NC_000023.11:g.71223932del
  • NG_008357.1:g.13721del
  • NM_000166.6:c.225delMANE SELECT
  • NM_001097642.2:c.225del
  • NM_001097642.3:c.225del
  • NP_000157.1:p.Leu76fs
  • NP_001091111.1:p.Leu76fs
  • NP_001091111.1:p.Leu76fs
  • LRG_245t1:c.225del
  • LRG_245t2:c.225del
  • LRG_245:g.13721del
  • LRG_245p1:p.Leu76fs
  • LRG_245p2:p.Leu76fs
  • NC_000023.10:g.70443782del
  • NM_000166.5:c.225delG
Protein change:
L76fs
Links:
dbSNP: rs116840820
NCBI 1000 Genomes Browser:
rs116840820
Molecular consequence:
  • NM_000166.6:c.225del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001097642.2:c.225del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001097642.3:c.225del - 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
SCV000929224Inherited 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

Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease.

Braathen GJ, Sand JC, Bukholm G, Russell MB.

BMC Neurol. 2007 Jul 9;7:19.

PubMed [citation]
PMID:
17620124
PMCID:
PMC1999495

Details of each submission

From Inherited Neuropathy Consortium, SCV000929224.1

#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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