NM_000344.4(SMN1):c.724-2A>G AND Kugelberg-Welander disease
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 3, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000785811.2
Allele description [Variation Report for NM_000344.4(SMN1):c.724-2A>G]
NM_000344.4(SMN1):c.724-2A>G
Condition(s)
- Name:
- Kugelberg-Welander disease (SMA3)
- Synonyms:
- SPINAL MUSCULAR ATROPHY, TYPE III; SMA III; Muscular atrophy, juvenile; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009672; MedGen: C0152109; Orphanet: 70; Orphanet: 83419; OMIM: 253400
Assertion and evidence details
Last Updated: Jun 10, 2023