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NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 8, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001508709.5

Allele description [Variation Report for NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)]

NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)

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.3190G>A (p.Glu1064Lys)
HGVS:
  • NC_000013.11:g.51944162C>T
  • NG_008806.1:g.72333G>A
  • NM_000053.4:c.3190G>AMANE SELECT
  • NM_001005918.3:c.2569G>A
  • NM_001243182.2:c.2857G>A
  • NM_001330578.2:c.2956G>A
  • NM_001330579.2:c.2938G>A
  • NP_000044.2:p.Glu1064Lys
  • NP_001005918.1:p.Glu857Lys
  • NP_001230111.1:p.Glu953Lys
  • NP_001317507.1:p.Glu986Lys
  • NP_001317508.1:p.Glu980Lys
  • NC_000013.10:g.52518298C>T
  • NM_000053.3:c.3190G>A
  • p.Glu1064Lys
Protein change:
E1064K
Links:
dbSNP: rs376910645
NCBI 1000 Genomes Browser:
rs376910645
Molecular consequence:
  • NM_000053.4:c.3190G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005918.3:c.2569G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243182.2:c.2857G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330578.2:c.2956G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330579.2:c.2938G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001715044Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Oct 8, 2019)
germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.

Figus A, Angius A, Loudianos G, Bertini C, Dessi V, Loi A, Deiana M, Lovicu M, Olla N, Sole G, et al.

Am J Hum Genet. 1995 Dec;57(6):1318-24.

PubMed [citation]
PMID:
8533760
PMCID:
PMC1801406

The other mutation is found: follow-up of an exceptional family with Wilson disease.

Firneisz G, Szonyi L, Ferenci P, Willheim C, Horvath A, Folhoffer A, Tulassay Z, Szalay F.

Am J Gastroenterol. 2004 Dec;99(12):2504-5. No abstract available.

PubMed [citation]
PMID:
15571607
See all PubMed Citations (10)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV001715044.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (10)

Description

PS3, PS4_moderate, PM2, PP1, PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024