NM_176787.5(PIGN):c.754G>T (p.Asp252Tyr) AND Multiple congenital anomalies-hypotonia-seizures syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 7, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003131961.3
Allele description [Variation Report for NM_176787.5(PIGN):c.754G>T (p.Asp252Tyr)]
NM_176787.5(PIGN):c.754G>T (p.Asp252Tyr)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024