NM_000065.5(C6):c.1802G>A (p.Cys601Tyr) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 9, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004431921.1
Allele description [Variation Report for NM_000065.5(C6):c.1802G>A (p.Cys601Tyr)]
NM_000065.5(C6):c.1802G>A (p.Cys601Tyr)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: May 7, 2024