NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) AND not provided
- Germline classification:
- Pathogenic (4 submissions)
- Last evaluated:
- May 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000186744.19
Allele description [Variation Report for NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)]
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Apr 20, 2024