NM_000329.3(RPE65):c.1451G>T (p.Gly484Val) AND Leber congenital amaurosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 9, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001199757.1
Allele description [Variation Report for NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)]
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)
Condition(s)
-
RecName: Full=Centriole and centriolar satellite protein OFD1; AltName: Full=Ora...
RecName: Full=Centriole and centriolar satellite protein OFD1; AltName: Full=Oral-facial-digital syndrome 1 protein; AltName: Full=Protein 71-7Agi|12643319|sp|O75665.1|OFD1_HUMANProtein
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See more...Assertion and evidence details
Last Updated: May 7, 2024