NM_000166.6(GJB1):c.394_395del (p.Trp132fs) AND Inborn genetic diseases

Clinical significance:Pathogenic (Last evaluated: Jun 14, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000624800.1

Allele description [Variation Report for NM_000166.6(GJB1):c.394_395del (p.Trp132fs)]

NM_000166.6(GJB1):c.394_395del (p.Trp132fs)

Gene:
GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_000166.6(GJB1):c.394_395del (p.Trp132fs)
HGVS:
  • NC_000023.11:g.71224099TG[1]
  • NG_008357.1:g.13888TG[1]
  • NM_000166.6:c.394_395delMANE SELECT
  • NM_001097642.3:c.394_395del
  • NP_000157.1:p.Trp132fs
  • NP_001091111.1:p.Trp132fs
  • LRG_245t2:c.394_395del
  • LRG_245:g.13888TG[1]
  • LRG_245p2:p.Trp132fs
  • NC_000023.10:g.70443949TG[1]
  • NC_000023.10:g.70443949_70443950delTG
  • NM_000166.5:c.394_395delTG
Protein change:
W132fs
Links:
dbSNP: rs1555937168
NCBI 1000 Genomes Browser:
rs1555937168
Molecular consequence:
  • NM_000166.6:c.394_395del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001097642.3:c.394_395del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000742559Ambry Geneticscriteria provided, single submitter
Pathogenic
(Jun 14, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000742559.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: May 28, 2021

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