NM_000052.7(ATP7A):c.1947-18T>C AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003083458.3
Allele description [Variation Report for NM_000052.7(ATP7A):c.1947-18T>C]
NM_000052.7(ATP7A):c.1947-18T>C
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
Assertion and evidence details
Last Updated: Sep 29, 2024