NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del) AND not provided

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001091635.1

Allele description [Variation Report for NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del)]

NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del)

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.3649_3654del (p.Val1217_Leu1218del)
HGVS:
  • NC_000013.10:g.52513232_52513237del
  • NC_000013.11:g.51939098_51939103del
  • NG_008806.1:g.77394_77399del
  • NM_000053.4:c.3649_3654delMANE SELECT
  • NM_001005918.3:c.3028_3033del
  • NM_001243182.1:c.3316_3321del
  • NM_001330578.1:c.3415_3420del
  • NM_001330579.2:c.3397_3402del
  • NP_000044.2:p.Val1217_Leu1218del
  • NP_001005918.1:p.Val1010_Leu1011del
  • NP_001230111.1:p.Val1106_Leu1107del
  • NP_001317507.1:p.Val1139_Leu1140del
  • NP_001317508.1:p.Val1133_Leu1134del
  • NC_000013.10:g.52513232_52513237del
  • NC_000013.10:g.52513234_52513239del
  • NC_000013.10:g.52513234_52513239delGAACCA
  • NM_000053.3:c.3649_3654del
  • NM_000053.3:c.3649_3654del6
Links:
dbSNP: rs781266802
NCBI 1000 Genomes Browser:
rs781266802
Molecular consequence:
  • NM_000053.4:c.3649_3654del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001005918.3:c.3028_3033del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001243182.1:c.3316_3321del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001330578.1:c.3415_3420del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001330579.2:c.3397_3402del - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001247792CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Feb 1, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001247792.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 10, 2021

Support Center