NM_001195248.2(APTX):c.505C>T (p.Gln169Ter) AND Ataxia-oculomotor apraxia type 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 27, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001337095.1
Allele description
NM_001195248.2(APTX):c.505C>T (p.Gln169Ter)
Condition(s)
- Name:
- Ataxia-oculomotor apraxia type 1 (EAOH)
- Synonyms:
- Early-onset ataxia with oculomotor apraxia and hypoalbuminemia; Ataxia-oculomotor apraxia syndrome; Ataxia-telangiectasia-like syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008842; MedGen: C1859598; Orphanet: 1168; OMIM: 208920
-
Wzx [Acinetobacter baumannii]
Wzx [Acinetobacter baumannii]gi|560939734|gb|AHB32313.1|Protein
-
hypothetical protein Syn7803US50_214 [Synechococcus phage ACG-2014f]
hypothetical protein Syn7803US50_214 [Synechococcus phage ACG-2014f]gi|723029301|gb|AIX33198.1|Protein
-
unnamed protein product [Mus musculus]
unnamed protein product [Mus musculus]gi|12833060|dbj|BAB22372.1|Protein
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Last Updated: Mar 28, 2021