NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser) AND Ehlers-Danlos syndrome, classic type, 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002229642.13
Allele description [Variation Report for NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser)]
NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser)
Condition(s)
- Name:
- Ehlers-Danlos syndrome, classic type, 1 (EDSCL1)
- Synonyms:
- EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0019567; MedGen: C0268335; OMIM: 130000
Assertion and evidence details
Last Updated: Sep 16, 2024