NM_000053.4(ATP7B):c.3664del (p.Asp1222fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 28, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000725177.1

Allele description [Variation Report for NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)]

NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)

Gene:
ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q14.3
Genomic location:
Preferred name:
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)
HGVS:
  • NC_000013.11:g.51939090del
  • NG_008806.1:g.77409del
  • NM_000053.4:c.3664delMANE SELECT
  • NM_001005918.3:c.3043del
  • NM_001243182.2:c.3331del
  • NM_001330578.2:c.3430del
  • NM_001330579.2:c.3412del
  • NP_000044.2:p.Asp1222fs
  • NP_001005918.1:p.Asp1015fs
  • NP_001230111.1:p.Asp1111fs
  • NP_001317507.1:p.Asp1144fs
  • NP_001317508.1:p.Asp1138fs
  • NC_000013.10:g.52513226del
  • NM_000053.3:c.3664delG
Protein change:
D1015fs
Links:
dbSNP: rs886042519
NCBI 1000 Genomes Browser:
rs886042519
Molecular consequence:
  • NM_000053.4:c.3664del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001005918.3:c.3043del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001243182.2:c.3331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330578.2:c.3430del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330579.2:c.3412del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000334658EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Aug 28, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000334658.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 30, 2021

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