NM_000492.4(CFTR):c.1762G>A (p.Glu588Lys) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001201269.2
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)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
RecName: Full=Neuronal acetylcholine receptor subunit beta-2; AltName: Full=Neur...
RecName: Full=Neuronal acetylcholine receptor subunit beta-2; AltName: Full=Neuronal acetylcholine receptor non-alpha-1 chain; Short=N-alpha 1; Flags: Precursorgi|6226548|sp|P12390.2|ACHB2_RATProtein
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Last Updated: May 19, 2024