NM_000492.4(CFTR):c.1083del (p.Trp361fs) AND Bronchiectasis with or without elevated sweat chloride 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003466831.1
Allele description [Variation Report for NM_000492.4(CFTR):c.1083del (p.Trp361fs)]
NM_000492.4(CFTR):c.1083del (p.Trp361fs)
Condition(s)
-
PREDICTED: Rattus norvegicus Rho GTPase activating protein 10 (Arhgap10), transc...
PREDICTED: Rattus norvegicus Rho GTPase activating protein 10 (Arhgap10), transcript variant X3, mRNAgi|2678914025|ref|XM_063278285.1|Nucleotide
-
PREDICTED: Rattus norvegicus Rho GTPase activating protein 10 (Arhgap10), transc...
PREDICTED: Rattus norvegicus Rho GTPase activating protein 10 (Arhgap10), transcript variant X8, mRNAgi|2678914030|ref|XM_039097990.2|Nucleotide
-
Komagataella phaffii GS115 Palmitoylated, plasma membrane-bound casein kinase I ...
Komagataella phaffii GS115 Palmitoylated, plasma membrane-bound casein kinase I isoform (PAS_chr2-1_0357), partial mRNAgi|254568293|ref|XM_002491212.1|Nucleotide
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Last Updated: Sep 29, 2024