NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn) AND Bronchiectasis with or without elevated sweat chloride 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003473492.2
Allele description [Variation Report for NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)]
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)
Condition(s)
-
Homo sapiens ubiquitin specific peptidase 6 (USP6), transcript variant 2, mRNA
Homo sapiens ubiquitin specific peptidase 6 (USP6), transcript variant 2, mRNAgi|747019228|ref|NM_004505.3|Nucleotide
-
Severe acute respiratory syndrome coronavirus 2 isolate SARS-CoV-2/human/USA/CA-...
Severe acute respiratory syndrome coronavirus 2 isolate SARS-CoV-2/human/USA/CA-CZB-59X002/2020, complete genomegi|1835438350|gb|MT394528.1|Nucleotide
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Last Updated: Sep 29, 2024