NM_000104.4(CYP1B1):c.349C>T (p.Arg117Trp) AND Glaucoma 3A
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001004166.1
Allele description [Variation Report for NM_000104.4(CYP1B1):c.349C>T (p.Arg117Trp)]
NM_000104.4(CYP1B1):c.349C>T (p.Arg117Trp)
Condition(s)
-
PREDICTED: mitochondrial basic amino acids transporter [Haliaeetus leucocephalus...
PREDICTED: mitochondrial basic amino acids transporter [Haliaeetus leucocephalus]gi|729769978|ref|XP_010582243.1|Protein
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Last Updated: Dec 30, 2023