NM_001182.5(ALDH7A1):c.1317+28G>A AND Pyridoxine-dependent epilepsy
- 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:
- RCV001549001.2
Allele description [Variation Report for NM_001182.5(ALDH7A1):c.1317+28G>A]
NM_001182.5(ALDH7A1):c.1317+28G>A
Condition(s)
- Name:
- Pyridoxine-dependent epilepsy (EPEO4)
- Synonyms:
- Pyridoxine dependency; Pyridoxine dependency with seizures; Vitamin B6-dependent seizures; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009945; MedGen: C1849508; Orphanet: 3006; OMIM: 266100
-
PREDICTED: Homo sapiens zinc finger protein 283 (ZNF283), transcript variant X1,...
PREDICTED: Homo sapiens zinc finger protein 283 (ZNF283), transcript variant X1, mRNAgi|2217320657|ref|XM_005258786.4|Nucleotide
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ye65d12.s1 Soares fetal liver spleen 1NFLS Homo sapiens cDNA clone IMAGE:122615 ...
ye65d12.s1 Soares fetal liver spleen 1NFLS Homo sapiens cDNA clone IMAGE:122615 3', mRNA sequencegi|748618|gnl|dbEST|169037|gb|T9888Nucleotide
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Last Updated: Jul 29, 2024