NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter) AND Wilson disease

Clinical significance:Likely pathogenic (Last evaluated: Feb 16, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000412018.1

Allele description [Variation Report for NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter)]

NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter)

Gene:
ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.3
Genomic location:
Preferred name:
NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter)
HGVS:
  • NC_000013.11:g.51975117T>A
  • NG_008806.1:g.41378A>T
  • NM_000053.4:c.103A>TMANE SELECT
  • NM_001005918.3:c.103A>T
  • NM_001243182.2:c.103A>T
  • NM_001330578.2:c.103A>T
  • NM_001330579.2:c.103A>T
  • NP_000044.2:p.Lys35Ter
  • NP_001005918.1:p.Lys35Ter
  • NP_001230111.1:p.Lys35Ter
  • NP_001317507.1:p.Lys35Ter
  • NP_001317508.1:p.Lys35Ter
  • NC_000013.10:g.52549253T>A
  • NM_000053.3:c.103A>T
Protein change:
K35*
Links:
dbSNP: rs1057516516
NCBI 1000 Genomes Browser:
rs1057516516
Molecular consequence:
  • NM_000053.4:c.103A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001005918.3:c.103A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001243182.2:c.103A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001330578.2:c.103A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001330579.2:c.103A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Wilson disease (WND)
Synonyms:
Wilson's disease; Hepatolenticular degeneration
Identifiers:
MONDO: MONDO:0010200; MedGen: C0019202; Orphanet: 905; OMIM: 277900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000485808Counsylcriteria provided, single submitter
Likely pathogenic
(Feb 16, 2016)
unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000485808.1

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

Last Updated: Nov 27, 2021

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