NM_006493.4(CLN5):c.793G>T (p.Glu265Ter) AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001850973.4
Allele description [Variation Report for NM_006493.4(CLN5):c.793G>T (p.Glu265Ter)]
NM_006493.4(CLN5):c.793G>T (p.Glu265Ter)
Condition(s)
-
formate dehydrogenase-N subunit alpha [Citrobacter farmeri]
formate dehydrogenase-N subunit alpha [Citrobacter farmeri]gi|1231142778|gnl|PRJNA397262|CI104 0|gb|AST81997.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024