NM_002317.7(LOX):c.1021A>C (p.Thr341Pro) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001530398.1
Allele description [Variation Report for NM_002317.7(LOX):c.1021A>C (p.Thr341Pro)]
NM_002317.7(LOX):c.1021A>C (p.Thr341Pro)
Condition(s)
- Name:
- Cutis laxa
- Identifiers:
- MONDO: MONDO:0016175; MedGen: C0010495; Human Phenotype Ontology: HP:0000973
- Name:
- Generalized arterial tortuosity
- Identifiers:
- MedGen: C1836651; Human Phenotype Ontology: HP:0004955
Assertion and evidence details
Last Updated: Dec 24, 2023