NM_001182.4(ALDH7A1):c.1493_1495delGAG AND Pyridoxine-dependent epilepsy
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001852439.16
Allele description [Variation Report for NM_001182.4(ALDH7A1):c.1493_1495delGAG]
NM_001182.4(ALDH7A1):c.1493_1495delGAG
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
-
Variovorax sp. B25 16S ribosomal RNA gene, partial sequence
Variovorax sp. B25 16S ribosomal RNA gene, partial sequencegi|471464495|gb|KC693707.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024