NM_003560.4(PLA2G6):c.1771C>T (p.Arg591Trp) AND Infantile neuroaxonal dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002032692.6
Allele description [Variation Report for NM_003560.4(PLA2G6):c.1771C>T (p.Arg591Trp)]
NM_003560.4(PLA2G6):c.1771C>T (p.Arg591Trp)
Condition(s)
Assertion and evidence details
Last Updated: Aug 4, 2024