NM_000166.6(GJB1):c.590C>T (p.Ala197Val) AND Charcot-Marie-Tooth disease X-linked dominant 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 11, 2019
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:
RCV000755014.2

Allele description [Variation Report for NM_000166.6(GJB1):c.590C>T (p.Ala197Val)]

NM_000166.6(GJB1):c.590C>T (p.Ala197Val)

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.590C>T (p.Ala197Val)
HGVS:
  • NC_000023.11:g.71224297C>T
  • NG_008357.1:g.14086C>T
  • NM_000166.6:c.590C>TMANE SELECT
  • NM_001097642.3:c.590C>T
  • NP_000157.1:p.Ala197Val
  • NP_001091111.1:p.Ala197Val
  • LRG_245t2:c.590C>T
  • LRG_245:g.14086C>T
  • LRG_245p2:p.Ala197Val
  • NC_000023.10:g.70444147C>T
  • NM_000166.5:c.590C>T
Protein change:
A197V
Links:
dbSNP: rs1569215418
NCBI 1000 Genomes Browser:
rs1569215418
Molecular consequence:
  • NM_000166.6:c.590C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.590C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease X-linked dominant 1
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000882747Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea
no assertion criteria provided
Pathogenic
(Feb 11, 2019) 		maternalresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedresearch

Details of each submission

From Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, SCV000882747.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024