NM_000492.4(CFTR):c.2973A>G (p.Ile991Met) AND Cystic fibrosis
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- Jun 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000294886.19
Allele description [Variation Report for NM_000492.4(CFTR):c.2973A>G (p.Ile991Met)]
NM_000492.4(CFTR):c.2973A>G (p.Ile991Met)
Condition(s)
-
Mus musculus hydroxysteroid (17-beta) dehydrogenase 13 (Hsd17b13), transcript va...
Mus musculus hydroxysteroid (17-beta) dehydrogenase 13 (Hsd17b13), transcript variant 1, mRNAgi|254553341|ref|NM_001163486.1|Nucleotide
-
ubiquitin-conjugating enzyme E2 D2 isoform 1 [Homo sapiens]
ubiquitin-conjugating enzyme E2 D2 isoform 1 [Homo sapiens]gi|4507775|ref|NP_003330.1|Protein
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Last Updated: Oct 20, 2024