NM_000492.4(CFTR):c.1391A>C (p.Lys464Thr) AND Cystic fibrosis
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 4, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000855425.1
Allele description [Variation Report for NM_000492.4(CFTR):c.1391A>C (p.Lys464Thr)]
NM_000492.4(CFTR):c.1391A>C (p.Lys464Thr)
Condition(s)
-
Capsular glucan synthase [Blautia producta]
Capsular glucan synthase [Blautia producta]gi|1575852200|gnl|MG|PMF13cell1_043 |QBE98776.1|Protein
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Last Updated: Apr 23, 2022