NM_000492.4(CFTR):c.3070G>A (p.Val1024Met) AND Cystic fibrosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003311499.2
Allele description [Variation Report for NM_000492.4(CFTR):c.3070G>A (p.Val1024Met)]
NM_000492.4(CFTR):c.3070G>A (p.Val1024Met)
Condition(s)
-
Homo sapiens oxoglutarate receptor 1 (OXGR1), transcript variant 5, mRNA
Homo sapiens oxoglutarate receptor 1 (OXGR1), transcript variant 5, mRNAgi|1890341705|ref|NM_080818.5|Nucleotide
-
transcription factor HES-5 [Homo sapiens]
transcription factor HES-5 [Homo sapiens]gi|58219048|ref|NP_001010926.1|Protein
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See more...Assertion and evidence details
Last Updated: May 1, 2024