NM_002860.4(ALDH18A1):c.2206+15G>A AND Hereditary spastic paraplegia 9A
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jul 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001548995.2
Allele description [Variation Report for NM_002860.4(ALDH18A1):c.2206+15G>A]
NM_002860.4(ALDH18A1):c.2206+15G>A
Condition(s)
- Name:
- Hereditary spastic paraplegia 9A
- Synonyms:
- SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; CATARACTS WITH MOTOR NEURONOPATHY, SHORT STATURE, AND SKELETAL ABNORMALITIES; Spastic paraplegia 9; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011006; MedGen: C5568978; Orphanet: 100990; Orphanet: 447753; OMIM: 601162
Assertion and evidence details
Last Updated: Aug 4, 2024