NM_002641.4(PIGA):c.230G>T (p.Arg77Leu) AND Multiple congenital anomalies-hypotonia-seizures syndrome 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 6, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000119285.4
Allele description [Variation Report for NM_002641.4(PIGA):c.230G>T (p.Arg77Leu)]
NM_002641.4(PIGA):c.230G>T (p.Arg77Leu)
Condition(s)
Assertion and evidence details
Last Updated: Jul 29, 2023