U.S. flag

An official website of the United States government

NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 16, 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:
RCV001274025.4

Allele description [Variation Report for NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)]

NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)

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.2383C>T (p.Arg795Ter)
HGVS:
  • NC_000023.11:g.78013089C>T
  • NG_013224.2:g.107393C>T
  • NM_000052.7:c.2383C>TMANE SELECT
  • NM_001282224.2:c.2172+1415C>T
  • NP_000043.4:p.Arg795Ter
  • NC_000023.10:g.77268586C>T
  • NM_000052.4:c.2383C>T
  • NM_000052.6:c.2383C>T
Protein change:
R795*
Links:
dbSNP: rs72554645
NCBI 1000 Genomes Browser:
rs72554645
Molecular consequence:
  • NM_001282224.2:c.2172+1415C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000052.7:c.2383C>T - nonsense - [Sequence Ontology: SO:0001587]

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
Name:
Cutis laxa, X-linked (OHS)
Synonyms:
EDS IX; Occipital horn syndrome; Ehlers-Danlos syndrome, occipital horn type (formerly); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010572; MedGen: C0268353; Orphanet: 198; OMIM: 304150
Name:
X-linked distal spinal muscular atrophy type 3
Synonyms:
SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE; NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED; NEUROPATHY, DISTAL HEREDITARY MOTOR, X-LINKED
Identifiers:
MONDO: MONDO:0010338; MedGen: C1845359; Orphanet: 139557; OMIM: 300489

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001457712Natera, Inc.
no assertion criteria provided
Pathogenic
(Sep 16, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001457712.1

#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: Jun 23, 2024