NM_001182.5(ALDH7A1):c.1270G>A (p.Ala424Thr) AND Pyridoxine-dependent epilepsy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000800652.7
Allele description [Variation Report for NM_001182.5(ALDH7A1):c.1270G>A (p.Ala424Thr)]
NM_001182.5(ALDH7A1):c.1270G>A (p.Ala424Thr)
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
-
aldehyde dehydrogenase family 9, subfamily A1 [Rattus norvegicus]
aldehyde dehydrogenase family 9, subfamily A1 [Rattus norvegicus]gi|149058126|gb|EDM09283.1||gnl|WGS |rCP34171Protein
-
prpA [Salmonella enterica subsp. enterica serovar Typhimurium str. LT2]
prpA [Salmonella enterica subsp. enterica serovar Typhimurium str. LT2]Gene ID:1253372Gene
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Last Updated: Oct 28, 2023