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NM_000166.6(GJB1):c.208C>G (p.Pro70Ala) 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:
RCV000789229.1

Allele description [Variation Report for NM_000166.6(GJB1):c.208C>G (p.Pro70Ala)]

NM_000166.6(GJB1):c.208C>G (p.Pro70Ala)

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.208C>G (p.Pro70Ala)
HGVS:
  • NC_000023.11:g.71223915C>G
  • NG_008357.1:g.13704C>G
  • NM_000166.6:c.208C>GMANE SELECT
  • NM_001097642.3:c.208C>G
  • NP_000157.1:p.Pro70Ala
  • NP_001091111.1:p.Pro70Ala
  • LRG_245t2:c.208C>G
  • LRG_245:g.13704C>G
  • LRG_245p2:p.Pro70Ala
  • NC_000023.10:g.70443765C>G
  • NM_000166.5:c.208C>G
  • P08034:p.Pro70Ala
Protein change:
P70A
Links:
UniProtKB: P08034#VAR_029914; dbSNP: rs878853697
NCBI 1000 Genomes Browser:
rs878853697
Molecular consequence:
  • NM_000166.6:c.208C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.208C>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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000928581Inherited 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 Charcot-Marie-Tooth disease and connexin32.

Ionasescu VV.

Cell Biol Int. 1998 Nov;22(11-12):807-13.

PubMed [citation]
PMID:
10873293

Details of each submission

From Inherited Neuropathy Consortium, SCV000928581.1

#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: Feb 20, 2024