NM_033109.4(PNPT1):c.887A>G (p.Tyr296Cys) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 6, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000200039.1
Allele description
NM_033109.4(PNPT1):c.887A>G (p.Tyr296Cys)
Condition(s)
- Identifiers:
- MedGen: CN221809
Assertion and evidence details
Last Updated: Nov 14, 2016