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NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) AND Hearing loss

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 2, 2014
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:
RCV000678885.9

Allele description [Variation Report for NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)]

NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)

Gene:
GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
HGVS:
  • NC_000013.11:g.20189155G>A
  • NG_008358.1:g.8821C>T
  • NM_004004.6:c.427C>TMANE SELECT
  • NP_003995.2:p.Arg143Trp
  • LRG_1350t1:c.427C>T
  • LRG_1350:g.8821C>T
  • LRG_1350p1:p.Arg143Trp
  • NC_000013.10:g.20763294G>A
  • NM_004004.5:c.427C>T
  • P29033:p.Arg143Trp
  • c.427C>T
  • c.427C>T (p.Arg143Trp)
Protein change:
R143W; ARG143TRP
Links:
UniProtKB: P29033#VAR_015460; OMIM: 121011.0009; dbSNP: rs80338948
NCBI 1000 Genomes Browser:
rs80338948
Molecular consequence:
  • NM_004004.6:c.427C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hearing loss
Identifiers:
MedGen: C3887873

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000805078Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
no assertion criteria provided
Pathogenic
(Oct 2, 2014) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000805078.1

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

Last Updated: Aug 25, 2024