NM_000492.4(CFTR):c.1390A>G (p.Lys464Glu) AND Cystic fibrosis
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 19, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001250572.1
Allele description [Variation Report for NM_000492.4(CFTR):c.1390A>G (p.Lys464Glu)]
NM_000492.4(CFTR):c.1390A>G (p.Lys464Glu)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022