NM_000090.4(COL3A1):c.1150G>C (p.Gly384Arg) AND Ehlers-Danlos syndrome, type 4
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003525256.2
Allele description [Variation Report for NM_000090.4(COL3A1):c.1150G>C (p.Gly384Arg)]
NM_000090.4(COL3A1):c.1150G>C (p.Gly384Arg)
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: Sep 29, 2024