NM_000044.6(AR):c.631G>A (p.Ala211Thr) AND Kennedy disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 17, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001332125.1
Allele description [Variation Report for NM_000044.6(AR):c.631G>A (p.Ala211Thr)]
NM_000044.6(AR):c.631G>A (p.Ala211Thr)
Condition(s)
- Name:
- Kennedy disease (SMAX1)
- Synonyms:
- SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; Bulbo-spinal atrophy X-linked; Kennedy spinal and bulbar muscular atrophy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010735; MedGen: C1839259; Orphanet: 481; OMIM: 313200
Assertion and evidence details
Last Updated: Mar 4, 2023