NM_002633.3(PGM1):c.1258T>C (p.Tyr420His) AND Congenital disorder of glycosylation
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000367456.5
Allele description [Variation Report for NM_002633.3(PGM1):c.1258T>C (p.Tyr420His)]
NM_002633.3(PGM1):c.1258T>C (p.Tyr420His)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024