NM_000090.4(COL3A1):c.2490G>C (p.Pro830=) AND Ehlers-Danlos syndrome, type 4
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Sep 6, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000532878.22
Allele description [Variation Report for NM_000090.4(COL3A1):c.2490G>C (p.Pro830=)]
NM_000090.4(COL3A1):c.2490G>C (p.Pro830=)
Condition(s)
- Name:
- Ehlers-Danlos syndrome, type 4
- Synonyms:
- Ehlers-Danlos syndrome vascular type; Ehlers Danlos syndrome, ecchymotic type; Ehlers Danlos syndrome, arterial type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0017314; MedGen: C0268338; Orphanet: 286; OMIM: 130050
Assertion and evidence details
Last Updated: Feb 25, 2025