NM_018941.4(CLN8):c.204del (p.Thr69fs) AND Neuronal ceroid lipofuscinosis 8
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 27, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000673003.1
Allele description [Variation Report for NM_018941.4(CLN8):c.204del (p.Thr69fs)]
NM_018941.4(CLN8):c.204del (p.Thr69fs)
Condition(s)
-
Saccharomyces cerevisiae S288C type 2C protein phosphatase PTC6 (PTC6), partial ...
Saccharomyces cerevisiae S288C type 2C protein phosphatase PTC6 (PTC6), partial mRNAgi|296143099|ref|NM_001180034.1|Nucleotide
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Last Updated: Mar 26, 2023