NM_001182.5(ALDH7A1):c.1318-8C>T AND Pyridoxine-dependent epilepsy
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003141311.5
Allele description [Variation Report for NM_001182.5(ALDH7A1):c.1318-8C>T]
NM_001182.5(ALDH7A1):c.1318-8C>T
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
-
Homo sapiens uncoupling protein homolog (UCPH) mRNA, complete cds
Homo sapiens uncoupling protein homolog (UCPH) mRNA, complete cdsgi|1111350373|gb|U94592.2|HSU94592Nucleotide
-
NAXE NAD(P)HX epimerase [Homo sapiens]
NAXE NAD(P)HX epimerase [Homo sapiens]Gene ID:128240Gene
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See more...Assertion and evidence details
Last Updated: Apr 6, 2024