NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) AND CFTR-related disorders
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001095146.1
Allele description
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)
Condition(s)
- Name:
- CFTR-related disorders (CFTR-RD)
- Identifiers:
Assertion and evidence details
Last Updated: Jan 3, 2022