NM_001195248.2(APTX):c.375A>T (p.Glu125Asp) AND Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000390070.13
Allele description [Variation Report for NM_001195248.2(APTX):c.375A>T (p.Glu125Asp)]
NM_001195248.2(APTX):c.375A>T (p.Glu125Asp)
Condition(s)
- Name:
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- Synonyms:
- Ataxia-oculomotor apraxia syndrome; Ataxia-telangiectasia-like syndrome; Early-onset cerebellar ataxia with hypoalbuminemia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008842; MedGen: C1859598; Orphanet: 1168; OMIM: 208920
Assertion and evidence details
Last Updated: Sep 8, 2024