NM_002868.4(RAB5B):c.406G>C (p.Asp136His) AND RAB5B-associated surfactant dysfunction disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 10, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001837728.2
Allele description [Variation Report for NM_002868.4(RAB5B):c.406G>C (p.Asp136His)]
NM_002868.4(RAB5B):c.406G>C (p.Asp136His)
Condition(s)
- Name:
- RAB5B-associated surfactant dysfunction disorder
- Identifiers:
Assertion and evidence details
Last Updated: Dec 24, 2023