NM_000166.6(GJB1):c.410del (p.Ile137fs) AND Charcot-Marie-Tooth Neuropathy X Type 1

Clinical significance:Pathogenic (Last evaluated: Oct 1, 1995)

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:
RCV000011185.4

Allele description [Variation Report for NM_000166.6(GJB1):c.410del (p.Ile137fs)]

NM_000166.6(GJB1):c.410del (p.Ile137fs)

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.410del (p.Ile137fs)
HGVS:
  • NC_000023.11:g.71224117del
  • NG_008357.1:g.13906del
  • NM_000166.6:c.410delMANE SELECT
  • NM_001097642.3:c.410del
  • NP_000157.1:p.Ile137fs
  • NP_001091111.1:p.Ile137fs
  • LRG_245t2:c.410del
  • LRG_245:g.13906del
  • LRG_245p2:p.Ile137fs
  • NC_000023.10:g.70443967del
  • NM_000166.5:c.410delT
Protein change:
I137fs
Links:
OMIM: 304040.0010; dbSNP: rs1602349316
NCBI 1000 Genomes Browser:
rs1602349316
Molecular consequence:
  • NM_000166.6:c.410del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001097642.3:c.410del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Charcot-Marie-Tooth Neuropathy X Type 1 (CMTX1)
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1; CMTX 1; Charcot-Marie-Tooth peroneal muscular atrophy, X-linked; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010549; MedGen: C0393808; Orphanet: 101075; OMIM: 302800

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000031412OMIMno assertion criteria providedPathogenic
(Oct 1, 1995)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.

Bone LJ, Dahl N, Lensch MW, Chance PF, Kelly T, Le Guern E, Magi S, Parry G, Shapiro H, Wang S, et al.

Neurology. 1995 Oct;45(10):1863-6.

PubMed [citation]
PMID:
7477983

Details of each submission

From OMIM, SCV000031412.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a family with X-linked Charcot-Marie-Tooth disease (302800), Bone et al. (1995) found a deletion of thymidine residue in codon 137 of CX32, resulting in a frameshift mutation which predicted a truncated 194-amino acid protein with the last 58 amino acids starting at codon 137 altered from wildtype.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

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