NM_000302.4(PLOD1):c.286A>T (p.Ile96Phe) AND Ehlers-Danlos syndrome, kyphoscoliotic type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 5, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000662014.4
Allele description [Variation Report for NM_000302.4(PLOD1):c.286A>T (p.Ile96Phe)]
NM_000302.4(PLOD1):c.286A>T (p.Ile96Phe)
Condition(s)
- Name:
- Ehlers-Danlos syndrome, kyphoscoliotic type 1 (EDSKSCL1)
- Synonyms:
- EHLERS-DANLOS SYNDROME, TYPE VIA; EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE; Nevo syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0016002; MedGen: C0268342; Orphanet: 1900; OMIM: 225400
Assertion and evidence details
Last Updated: Aug 5, 2023