NM_018941.4(CLN8):c.693G>A (p.Leu231=) AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 26, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001451780.6
Allele description [Variation Report for NM_018941.4(CLN8):c.693G>A (p.Leu231=)]
NM_018941.4(CLN8):c.693G>A (p.Leu231=)
Condition(s)
-
RecName: Full=Vimentin
RecName: Full=Vimentingi|138535|sp|P02544.2|VIME_MESAUProtein
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Last Updated: Sep 29, 2024