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NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe) AND Menkes kinky-hair syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 5, 2020
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:
RCV001830686.1

Allele description [Variation Report for NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)]

NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)

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.4356G>C (p.Leu1452Phe)
HGVS:
  • NC_000023.11:g.78046423G>C
  • NG_013224.2:g.140727G>C
  • NM_000052.7:c.4356G>CMANE SELECT
  • NM_001282224.2:c.4122G>C
  • NP_000043.4:p.Leu1452Phe
  • NP_001269153.1:p.Leu1374Phe
  • NC_000023.10:g.77301920G>C
  • NM_000052.6:c.4356G>C
  • NR_104109.2:n.1529G>C
Protein change:
L1374F
Links:
dbSNP: rs782364202
NCBI 1000 Genomes Browser:
rs782364202
Molecular consequence:
  • NM_000052.7:c.4356G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282224.2:c.4122G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104109.2:n.1529G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002089110Natera, Inc.
no assertion criteria provided
Uncertain significance
(Nov 5, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002089110.1

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

Last Updated: Jul 15, 2024