NM_000336.3(SCNN1B):c.648dup (p.Glu217fs) AND Bronchiectasis with or without elevated sweat chloride 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001849569.10
Allele description [Variation Report for NM_000336.3(SCNN1B):c.648dup (p.Glu217fs)]
NM_000336.3(SCNN1B):c.648dup (p.Glu217fs)
Condition(s)
-
BioProject Links for Protein (Select 978900897) (1)
BioProject
-
Burkholderia
BurkholderiaBurkholderia Genome sequencing and assemblyBioProject
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See more...Assertion and evidence details
Last Updated: Jun 2, 2024