NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu) AND Ehlers-Danlos syndrome, classic type, 1
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002231689.14
Allele description [Variation Report for NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu)]
NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu)
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
-
Paroxysmal nocturnal hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria 1MedGen
-
C3806670[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024