NM_000090.4(COL3A1):c.2277C>T (p.Gly759=) AND Ehlers-Danlos syndrome, type 4
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Dec 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001435355.9
Allele description [Variation Report for NM_000090.4(COL3A1):c.2277C>T (p.Gly759=)]
NM_000090.4(COL3A1):c.2277C>T (p.Gly759=)
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
-
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-
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Last Updated: Sep 29, 2024