NM_000492.4(CFTR):c.3039del (p.Tyr1014fs) AND Cystic fibrosis
- Germline classification:
- Pathogenic (6 submissions)
- Last evaluated:
- Mar 17, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000046765.17
Allele description [Variation Report for NM_000492.4(CFTR):c.3039del (p.Tyr1014fs)]
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024