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NM_000166.6(GJB1):c.545C>T (p.Ser182Phe) 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:
RCV000789891.1

Allele description [Variation Report for NM_000166.6(GJB1):c.545C>T (p.Ser182Phe)]

NM_000166.6(GJB1):c.545C>T (p.Ser182Phe)

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.545C>T (p.Ser182Phe)
HGVS:
  • NC_000023.11:g.71224252C>T
  • NG_008357.1:g.14041C>T
  • NM_000166.6:c.545C>TMANE SELECT
  • NM_001097642.3:c.545C>T
  • NP_000157.1:p.Ser182Phe
  • NP_001091111.1:p.Ser182Phe
  • LRG_245t2:c.545C>T
  • LRG_245:g.14041C>T
  • LRG_245p2:p.Ser182Phe
  • NC_000023.10:g.70444102C>T
  • NM_000166.5:c.545C>T
Protein change:
S182F
Links:
dbSNP: rs1602349631
NCBI 1000 Genomes Browser:
rs1602349631
Molecular consequence:
  • NM_000166.6:c.545C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.545C>T - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000929276Inherited 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

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.

Mandich P, Grandis M, Geroldi A, Acquaviva M, Varese A, Gulli R, Ciotti P, Bellone E.

J Hum Genet. 2008;53(6):529-533. doi: 10.1007/s10038-008-0280-4. Epub 2008 Apr 1.

PubMed [citation]
PMID:
18379723

Details of each submission

From Inherited Neuropathy Consortium, SCV000929276.1

#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