U.S. flag

An official website of the United States government

NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) AND Menkes kinky-hair syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 6, 2019
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:
RCV001834781.8

Allele description [Variation Report for NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=)]

NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=)

Genes:
PGK1:phosphoglycerate kinase 1 [Gene - OMIM - HGNC]
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.4389T>C (p.Ser1463=)
HGVS:
  • NC_000023.11:g.78046456T>C
  • NG_013224.2:g.140760T>C
  • NM_000052.7:c.4389T>CMANE SELECT
  • NM_001282224.2:c.4155T>C
  • NP_000043.4:p.Ser1463=
  • NP_001269153.1:p.Ser1385=
  • NC_000023.10:g.77301953T>C
  • NM_000052.4:c.4389T>C
  • NM_000052.6:c.4389T>C
  • NR_104109.2:n.1562T>C
Links:
dbSNP: rs371939448
NCBI 1000 Genomes Browser:
rs371939448
Molecular consequence:
  • NR_104109.2:n.1562T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000052.7:c.4389T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001282224.2:c.4155T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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

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
SCV002089113Natera, Inc.
no assertion criteria provided
Benign
(Dec 6, 2019)
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., SCV002089113.1

#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