NM_000492.4(CFTR):c.1444A>G (p.Ile482Val) AND CFTR-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 2, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001831079.1
Allele description [Variation Report for NM_000492.4(CFTR):c.1444A>G (p.Ile482Val)]
NM_000492.4(CFTR):c.1444A>G (p.Ile482Val)
Condition(s)
- Name:
- CFTR-related disorder (CFTR-RD)
- Synonyms:
- CFTR-related disorders; CFTR-related condition
- Identifiers:
-
Mus musculus DNA segment, Chr 4, Wayne State University 53, expressed, mRNA (cDN...
Mus musculus DNA segment, Chr 4, Wayne State University 53, expressed, mRNA (cDNA clone MGC:58085 IMAGE:6813388), complete cdsgi|29144957|gb|BC046231.1|Nucleotide
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Last Updated: Sep 29, 2024