NM_000298.6(PKLR):c.505G>T (p.Gly169Trp) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002558004.9
Allele description [Variation Report for NM_000298.6(PKLR):c.505G>T (p.Gly169Trp)]
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Oct 8, 2024