U.S. flag

An official website of the United States government

NM_000166.6(GJB1):c.551C>G (p.Pro184Arg) 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:
RCV000789251.1

Allele description [Variation Report for NM_000166.6(GJB1):c.551C>G (p.Pro184Arg)]

NM_000166.6(GJB1):c.551C>G (p.Pro184Arg)

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.551C>G (p.Pro184Arg)
HGVS:
  • NC_000023.11:g.71224258C>G
  • NG_008357.1:g.14047C>G
  • NM_000166.6:c.551C>GMANE SELECT
  • NM_001097642.3:c.551C>G
  • NP_000157.1:p.Pro184Arg
  • NP_001091111.1:p.Pro184Arg
  • LRG_245t2:c.551C>G
  • LRG_245:g.14047C>G
  • LRG_245p2:p.Pro184Arg
  • NC_000023.10:g.70444108C>G
  • NM_000166.5:c.551C>G
Protein change:
P184R
Links:
dbSNP: rs1602349646
NCBI 1000 Genomes Browser:
rs1602349646
Molecular consequence:
  • NM_000166.6:c.551C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.551C>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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000928603Inherited 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

Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.

Young P, Grote K, Kuhlenbäumer G, Debus O, Kurlemann H, Halfter H, Funke H, Ringelstein EB, Stögbauer F.

J Neurol. 2001 May;248(5):410-5.

PubMed [citation]
PMID:
11437164

Details of each submission

From Inherited Neuropathy Consortium, SCV000928603.1

#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