NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) AND Ehlers-Danlos syndrome, classic type
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 19, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000464769.4
Allele description
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser)
Condition(s)
- Name:
- Ehlers-Danlos syndrome, classic type (EDSCL1)
- Synonyms:
- EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; See all synonyms [MedGen]
- Identifiers:
- MedGen: C4552122; Orphanet: 287; OMIM: 130000
Assertion and evidence details
Last Updated: Nov 2, 2019