NM_002863.5(PYGL):c.2068A>T (p.Ile690Phe) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003887440.6
Allele description
NM_002863.5(PYGL):c.2068A>T (p.Ile690Phe)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Aug 4, 2024