NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003767836.1
Allele description [Variation Report for NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp)]
NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp)
Condition(s)
- Name:
- Cutis laxa, autosomal dominant 3 (ADCL3)
- Identifiers:
- MONDO: MONDO:0014706; MedGen: C4225268; Orphanet: 90348; OMIM: 616603
- Name:
- Autosomal dominant spastic paraplegia type 9
- Identifiers:
- MONDO: MONDO:0015091; MedGen: C1832669
- Name:
- de Barsy syndrome (ARCL3A)
- Synonyms:
- Corneal clouding cutis laxa mental retardation; Progeroid syndrome of De Barsy; Cutis laxa growth deficiency syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0017569; MedGen: C0268354
Assertion and evidence details
Last Updated: Aug 25, 2024