NM_012463.4(ATP6V0A2):c.1606-12G>A AND Cutis laxa with osteodystrophy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001114687.4
Allele description [Variation Report for NM_012463.4(ATP6V0A2):c.1606-12G>A]
NM_012463.4(ATP6V0A2):c.1606-12G>A
Condition(s)
- Name:
- Cutis laxa with osteodystrophy (ARCL2A)
- Synonyms:
- CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; CUTIS LAXA WITH BONE DYSTROPHY; CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018163; MedGen: C0268355; OMIM: 219200
Assertion and evidence details
Last Updated: Sep 29, 2024