NM_000492.4(CFTR):c.2917C>T (p.Leu973Phe) AND Obstructive azoospermia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 23, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001648515.2
Allele description [Variation Report for NM_000492.4(CFTR):c.2917C>T (p.Leu973Phe)]
NM_000492.4(CFTR):c.2917C>T (p.Leu973Phe)
Condition(s)
- Name:
- Obstructive azoospermia
- Identifiers:
- MedGen: C4023106; Human Phenotype Ontology: HP:0011962
Assertion and evidence details
Last Updated: Jun 23, 2024