NM_000052.7(ATP7A):c.2172+6T>G 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:: RCV003312957.1

Allele description [Variation Report for NM_000052.7(ATP7A):c.2172+6T>G]

NM_000052.7(ATP7A):c.2172+6T>G

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.2172+6T>G

HGVS:

NC_000023.11:g.78011680T>G
NG_013224.2:g.105984T>G
NM_000052.7:c.2172+6T>GMANE SELECT
NM_001282224.2:c.2172+6T>G
NC_000023.10:g.77267177T>G
NM_000052.6:c.2172+6T>G

Molecular consequence:

NM_000052.7:c.2172+6T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001282224.2:c.2172+6T>G - intron variant - [Sequence Ontology: SO:0001627]

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

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complement decay-accelerating factor isoform X2 [Pan paniscus]
complement decay-accelerating factor isoform X2 [Pan paniscus]
gi|2490696977|ref|XP_054964650.1|

Protein
protein PHTF1 isoform g [Homo sapiens]
protein PHTF1 isoform g [Homo sapiens]
gi|1019367112|ref|NP_001309982.1|

Protein
Cep44 centrosomal protein 44 [Mus musculus]
Cep44 centrosomal protein 44 [Mus musculus]
Gene ID:382010

Gene
382010[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004012029	Inherited Neuropathy Consortium Ii, University Of Miami	no assertion criteria provided	Uncertain significance (Jan 6, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004012029

Inherited Neuropathy Consortium Ii, University Of Miami

no assertion criteria provided

Uncertain significance
(Jan 6, 2016)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.

Gu YH, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.

Am J Med Genet. 2001 Mar 15;99(3):217-22.

PubMed [citation]

PMID:: 11241493

Details of each submission

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004012029.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 16, 2023

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