NM_018941.4(CLN8):c.763C>G (p.Gln255Glu) AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 25, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001920880.8
Allele description [Variation Report for NM_018941.4(CLN8):c.763C>G (p.Gln255Glu)]
NM_018941.4(CLN8):c.763C>G (p.Gln255Glu)
Condition(s)
-
Homo sapiens lysine-rich coiled-coil 1, mRNA (cDNA clone MGC:111153 IMAGE:466898...
Homo sapiens lysine-rich coiled-coil 1, mRNA (cDNA clone MGC:111153 IMAGE:4668988), complete cdsgi|77748407|gb|BC107580.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024