NM_002637.4(PHKA1):c.446C>T (p.Thr149Ile) AND Glycogen storage disease IXd
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002805609.2
Allele description [Variation Report for NM_002637.4(PHKA1):c.446C>T (p.Thr149Ile)]
NM_002637.4(PHKA1):c.446C>T (p.Thr149Ile)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024