NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu) AND CFTR-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 2, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001827193.8
Allele description [Variation Report for NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu)]
NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu)
Condition(s)
- Name:
- CFTR-related disorder (CFTR-RD)
- Synonyms:
- CFTR-related disorders; CFTR-related condition
- Identifiers:
-
UDP-glucuronate 4-epimerase 6 [Glycine max]
UDP-glucuronate 4-epimerase 6 [Glycine max]gi|356512447|ref|XP_003524930.1|Protein
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Last Updated: Oct 26, 2024