NM_002637.4(PHKA1):c.2587C>T (p.Arg863Ter) AND Glycogen storage disease IXd
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003623542.1
Allele description [Variation Report for NM_002637.4(PHKA1):c.2587C>T (p.Arg863Ter)]
NM_002637.4(PHKA1):c.2587C>T (p.Arg863Ter)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024