NM_017882.3(CLN6):c.665+18T>C AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003830390.1
Allele description [Variation Report for NM_017882.3(CLN6):c.665+18T>C]
NM_017882.3(CLN6):c.665+18T>C
Condition(s)
-
RecName: Full=Psi-producing oxygenase A; AltName: Full=Fatty acid oxygenase ppoA...
RecName: Full=Psi-producing oxygenase A; AltName: Full=Fatty acid oxygenase ppoA; Includes: RecName: Full=Linoleate 8R-lipoxygenase; Includes: RecName: Full=9,12-octadecadienoate 8-hydroperoxide 8R-isomerasegi|74671568|sp|Q4WPX2.1|PPOA_ASPFUProtein
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024