NM_000492.4(CFTR):c.1762G>A (p.Glu588Lys) AND CFTR-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 22, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001828615.1
Allele description [Variation Report for NM_000492.4(CFTR):c.1762G>A (p.Glu588Lys)]
NM_000492.4(CFTR):c.1762G>A (p.Glu588Lys)
Condition(s)
- Name:
- CFTR-related disorder (CFTR-RD)
- Synonyms:
- CFTR-related disorders; CFTR-related condition
- Identifiers:
-
hypothetical protein [Amblyomma maculatum]
hypothetical protein [Amblyomma maculatum]gi|346472443|gb|AEO36066.1|Protein
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Last Updated: Sep 29, 2024