NM_000492.3(CFTR):c.1013C>T (p.Thr338Ile) AND Cystic fibrosis
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Mar 28, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000007614.5
Allele description
NM_000492.3(CFTR):c.1013C>T (p.Thr338Ile)
Condition(s)
- Name:
- Cystic fibrosis (CF)
- Identifiers:
- MedGen: C0010674; Orphanet: 586; OMIM: 219700
- Age of onset:
- All ages
- Prevalence:
- 1-9 / 100 000 Orphanet: 586
- 1:3200
- 1 in 2000-4000 depending on the population studied. http://www.omim.org/entry/219700
Assertion and evidence details
Last Updated: Sep 17, 2016