NM_000492.4(CFTR):c.3725T>A (p.Leu1242His) AND Cystic fibrosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002284549.1
Allele description [Variation Report for NM_000492.4(CFTR):c.3725T>A (p.Leu1242His)]
NM_000492.4(CFTR):c.3725T>A (p.Leu1242His)
Condition(s)
-
Mus musculus scribbled homolog (Drosophila) (Scrib), mRNA
Mus musculus scribbled homolog (Drosophila) (Scrib), mRNAgi|20373162|ref|NM_134089.1|Nucleotide
-
Homo sapiens cDNA clone IMAGE:6151131, containing frame-shift errors
Homo sapiens cDNA clone IMAGE:6151131, containing frame-shift errorsgi|80479344|gb|BC108671.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 24, 2022