NM_017882.3(CLN6):c.456del (p.Ile153fs) AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003531590.2
Allele description [Variation Report for NM_017882.3(CLN6):c.456del (p.Ile153fs)]
NM_017882.3(CLN6):c.456del (p.Ile153fs)
Condition(s)
-
4-alpha-glucanotransferase [Halorhabdus utahensis DSM 12940]
4-alpha-glucanotransferase [Halorhabdus utahensis DSM 12940]gi|256690895|gnl|jgi|Huta_1049|gb|A 32.1|Protein
-
malQ [Photobacterium damselae]
malQ [Photobacterium damselae]Gene ID:57343023Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024