NM_000492.4(CFTR):c.1517T>A (p.Ile506Asn) AND Cystic fibrosis
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002284519.1
Allele description [Variation Report for NM_000492.4(CFTR):c.1517T>A (p.Ile506Asn)]
NM_000492.4(CFTR):c.1517T>A (p.Ile506Asn)
Condition(s)
Assertion and evidence details
Last Updated: Sep 24, 2022