NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr) AND Ehlers-Danlos syndrome, type 4
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 27, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000465133.17
Allele description [Variation Report for NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr)]
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr)
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: Nov 24, 2024