U.S. flag

An official website of the United States government

NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) AND Charcot-Marie-Tooth disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 16, 2020
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:
RCV001276388.1

Allele description [Variation Report for NM_000166.6(GJB1):c.224G>A (p.Arg75Gln)]

NM_000166.6(GJB1):c.224G>A (p.Arg75Gln)

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.224G>A (p.Arg75Gln)
HGVS:
  • NC_000023.11:g.71223931G>A
  • NG_008357.1:g.13720G>A
  • NM_000166.6:c.224G>AMANE SELECT
  • NM_001097642.3:c.224G>A
  • NP_000157.1:p.Arg75Gln
  • NP_001091111.1:p.Arg75Gln
  • LRG_245t2:c.224G>A
  • LRG_245:g.13720G>A
  • LRG_245p2:p.Arg75Gln
  • NC_000023.10:g.70443781G>A
  • NM_000166.5:c.224G>A
  • P08034:p.Arg75Gln
Protein change:
R75Q
Links:
UniProtKB: P08034#VAR_002052; dbSNP: rs863224972
NCBI 1000 Genomes Browser:
rs863224972
Molecular consequence:
  • NM_000166.6:c.224G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.224G>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

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
SCV001462644Natera, Inc.
no assertion criteria provided
Pathogenic
(Sep 16, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV001462644.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024