NM_002637.4(PHKA1):c.686A>G (p.His229Arg) AND Glycogen storage disease IXd
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003621709.1
Allele description [Variation Report for NM_002637.4(PHKA1):c.686A>G (p.His229Arg)]
NM_002637.4(PHKA1):c.686A>G (p.His229Arg)
Condition(s)
Assertion and evidence details
Last Updated: Aug 4, 2024