NM_000166.6(GJB1):c.98T>A (p.Ile33Asn) AND Charcot-Marie-Tooth disease

Clinical significance:Uncertain significance

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000789897.1

Allele description [Variation Report for NM_000166.6(GJB1):c.98T>A (p.Ile33Asn)]

NM_000166.6(GJB1):c.98T>A (p.Ile33Asn)

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.98T>A (p.Ile33Asn)
HGVS:
  • NC_000023.11:g.71223805T>A
  • NG_008357.1:g.13594T>A
  • NM_000166.6:c.98T>AMANE SELECT
  • NM_001097642.3:c.98T>A
  • NP_000157.1:p.Ile33Asn
  • NP_001091111.1:p.Ile33Asn
  • LRG_245t2:c.98T>A
  • LRG_245:g.13594T>A
  • LRG_245p2:p.Ile33Asn
  • NC_000023.10:g.70443655T>A
  • NM_000166.5:c.98T>A
Protein change:
I33N
Links:
dbSNP: rs1602348722
NCBI 1000 Genomes Browser:
rs1602348722
Molecular consequence:
  • NM_000166.6:c.98T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.98T>A - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000929282Inherited Neuropathy Consortiumno assertion criteria providedUncertain significancegermlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Recurrent central nervous system white matter changes in charcot-Marie-tooth type X disease.

McKinney JL, De Los Reyes EC, Lo WD, Flanigan KM.

Muscle Nerve. 2014 Mar;49(3):451-4. doi: 10.1002/mus.24108. Epub 2014 Jan 27.

PubMed [citation]
PMID:
24170412

Details of each submission

From Inherited Neuropathy Consortium, SCV000929282.1

#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: Nov 27, 2021

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