NM_000492.4(CFTR):c.262_263del (p.Leu88fs) AND Bronchiectasis with or without elevated sweat chloride 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 23, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003473049.2
Allele description [Variation Report for NM_000492.4(CFTR):c.262_263del (p.Leu88fs)]
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)
Condition(s)
-
Mus musculus C-type lectin domain family 11, member a, mRNA (cDNA clone MGC:5762...
Mus musculus C-type lectin domain family 11, member a, mRNA (cDNA clone MGC:5762 IMAGE:3484887), complete cdsgi|12805088|gb|BC002001.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024