NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000763153.9
Allele description [Variation Report for NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)]
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)
Condition(s)
- Name:
- Bronchiectasis with or without elevated sweat chloride 1 (BESC1)
- Synonyms:
- Cystic Fibrosis-Like Syndrome
- Identifiers:
- MONDO: MONDO:0008887; MedGen: C2749757; Orphanet: 60033; OMIM: 211400
- Name:
- Cystic fibrosis (CF)
- Synonyms:
- Mucoviscidosis
- Identifiers:
- MONDO: MONDO:0009061; MedGen: C0010674; Orphanet: 586; OMIM: 219700
Assertion and evidence details
Last Updated: Aug 11, 2024