NM_000166.6(GJB1):c.358_360del (p.Val120del) 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:
RCV000789916.1

Allele description [Variation Report for NM_000166.6(GJB1):c.358_360del (p.Val120del)]

NM_000166.6(GJB1):c.358_360del (p.Val120del)

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.358_360del (p.Val120del)
HGVS:
  • NC_000023.11:g.71224065_71224067del
  • NG_008357.1:g.13854_13856del
  • NM_000166.6:c.358_360delMANE SELECT
  • NM_001097642.3:c.358_360del
  • NP_000157.1:p.Val120del
  • NP_001091111.1:p.Val120del
  • LRG_245t2:c.358_360del
  • LRG_245:g.13854_13856del
  • LRG_245p2:p.Val120del
  • NC_000023.10:g.70443915_70443917del
  • NM_000166.5:c.358_360delGTG
Protein change:
V120del
Links:
dbSNP: rs1602349233
NCBI 1000 Genomes Browser:
rs1602349233
Molecular consequence:
  • NM_000166.6:c.358_360del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001097642.3:c.358_360del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000929301Inherited 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

Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.

Numakura C, Lin C, Ikegami T, Guldberg P, Hayasaka K.

Hum Mutat. 2002 Nov;20(5):392-8.

PubMed [citation]
PMID:
12402337

Details of each submission

From Inherited Neuropathy Consortium, SCV000929301.1

#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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