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NM_000166.6(GJB1):c.64C>G (p.Arg22Gly) AND Charcot-Marie-Tooth disease

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000789932.1

Allele description [Variation Report for NM_000166.6(GJB1):c.64C>G (p.Arg22Gly)]

NM_000166.6(GJB1):c.64C>G (p.Arg22Gly)

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.64C>G (p.Arg22Gly)
HGVS:
  • NC_000023.11:g.71223771C>G
  • NG_008357.1:g.13560C>G
  • NM_000166.6:c.64C>GMANE SELECT
  • NM_001097642.3:c.64C>G
  • NP_000157.1:p.Arg22Gly
  • NP_001091111.1:p.Arg22Gly
  • LRG_245t2:c.64C>G
  • LRG_245:g.13560C>G
  • LRG_245p2:p.Arg22Gly
  • NC_000023.10:g.70443621C>G
  • NM_000166.5:c.64C>G
Protein change:
R22G
Links:
dbSNP: rs1555937020
NCBI 1000 Genomes Browser:
rs1555937020
Molecular consequence:
  • NM_000166.6:c.64C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.64C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000929317Inherited Neuropathy Consortium
no assertion criteria provided
Uncertain significancegermlineliterature only

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

Help

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 (CMTX): new mutations in the connexin32 gene.

Ressot C, Latour P, Blanquet-Grossard F, Sturtz F, Duthel S, Battin J, Corbillon E, Ollagnon E, Serville F, Vandenberghe A, Dautigny A, Pham-Dinh D.

Hum Genet. 1996 Aug;98(2):172-5.

PubMed [citation]
PMID:
8698335

Details of each submission

From Inherited Neuropathy Consortium, SCV000929317.1

#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: Apr 23, 2022