NM_000492.4(CFTR):c.950T>C (p.Val317Ala) AND CFTR-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001834853.1
Allele description [Variation Report for NM_000492.4(CFTR):c.950T>C (p.Val317Ala)]
NM_000492.4(CFTR):c.950T>C (p.Val317Ala)
Condition(s)
- Name:
- CFTR-related disorder (CFTR-RD)
- Synonyms:
- CFTR-related disorders; CFTR-related condition
- Identifiers:
-
Mus musculus microsomal glutathione S-transferase 3 (Mgst3), mRNA; nuclear gene ...
Mus musculus microsomal glutathione S-transferase 3 (Mgst3), mRNA; nuclear gene for mitochondrial productgi|1565520711|ref|NM_025569.2|Nucleotide
-
Rattus norvegicus galectin 3 binding protein (Lgals3bp), mRNA
Rattus norvegicus galectin 3 binding protein (Lgals3bp), mRNAgi|1937920737|ref|NM_139096.2|Nucleotide
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Last Updated: Sep 16, 2024