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NM_000052.7(ATP7A):c.2158T>C (p.Cys720Arg) AND Menkes kinky-hair syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 6, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003312950.1

Allele description [Variation Report for NM_000052.7(ATP7A):c.2158T>C (p.Cys720Arg)]

NM_000052.7(ATP7A):c.2158T>C (p.Cys720Arg)

Gene:
ATP7A:ATPase copper transporting alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq21.1
Genomic location:
Preferred name:
NM_000052.7(ATP7A):c.2158T>C (p.Cys720Arg)
HGVS:
  • NC_000023.11:g.78011660T>C
  • NG_013224.2:g.105964T>C
  • NM_000052.7:c.2158T>CMANE SELECT
  • NM_001282224.2:c.2158T>C
  • NP_000043.4:p.Cys720Arg
  • NP_001269153.1:p.Cys720Arg
  • NC_000023.10:g.77267157T>C
  • NM_000052.6:c.2158T>C
Protein change:
C720R
Molecular consequence:
  • NM_000052.7:c.2158T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282224.2:c.2158T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Menkes kinky-hair syndrome (MNK)
Synonyms:
Kinky hair disease; Copper transport disease; Menkes Disease
Identifiers:
MONDO: MONDO:0010651; MedGen: C0022716; Orphanet: 565; OMIM: 309400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004012021Inherited Neuropathy Consortium Ii, University Of Miami
no assertion criteria provided
Uncertain significance
(Jan 6, 2016) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification of point mutations in 41 unrelated patients affected with Menkes disease.

Tümer Z, Lund C, Tolshave J, Vural B, Tønnesen T, Horn N.

Am J Hum Genet. 1997 Jan;60(1):63-71.

PubMed [citation]
PMID:
8981948
PMCID:
PMC1712537

Details of each submission

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004012021.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 16, 2023