NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) AND CFTR-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 18, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002281554.8
Allele description [Variation Report for NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)]
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)
Condition(s)
- Name:
- CFTR-related disorder (CFTR-RD)
- Synonyms:
- CFTR-related disorders; CFTR-related condition
- Identifiers:
-
Polaromonas sp. 190 16S ribosomal RNA gene, partial sequence
Polaromonas sp. 190 16S ribosomal RNA gene, partial sequencegi|270282535|gb|GU213397.1|Nucleotide
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Last Updated: Jun 29, 2024