NM_015040.4(PIKFYVE):c.1715G>A (p.Arg572Gln) AND Fleck corneal dystrophy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000335905.5
Allele description [Variation Report for NM_015040.4(PIKFYVE):c.1715G>A (p.Arg572Gln)]
NM_015040.4(PIKFYVE):c.1715G>A (p.Arg572Gln)
Condition(s)
-
Homo sapiens cytochrome c oxidase assembly factor COX14 (COX14), transcript vari...
Homo sapiens cytochrome c oxidase assembly factor COX14 (COX14), transcript variant 3, mRNAgi|1676319889|ref|NM_001257134.2|Nucleotide
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Last Updated: May 19, 2024