NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001004288.1
Allele description [Variation Report for NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)]
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)
Condition(s)
-
PREDICTED: Nanorana parkeri plectin (PLEC), transcript variant X2, mRNA
PREDICTED: Nanorana parkeri plectin (PLEC), transcript variant X2, mRNAgi|1072265249|ref|XM_018562626.1|Nucleotide
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Last Updated: May 1, 2024