NM_000329.3(RPE65):c.701G>A (p.Arg234Gln) AND Leber congenital amaurosis 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 28, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001100588.4
Allele description [Variation Report for NM_000329.3(RPE65):c.701G>A (p.Arg234Gln)]
NM_000329.3(RPE65):c.701G>A (p.Arg234Gln)
Condition(s)
-
stearoyl-coa desaturase oxidorecuctase protein-like protein [Ramlibacter tataoui...
stearoyl-coa desaturase oxidorecuctase protein-like protein [Ramlibacter tataouinensis TTB310]gi|334731906|gnl|RtaDB|Rta_31710|gb 4282.1|Protein
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024