NM_001042432.2(CLN3):c.683del (p.Phe228fs) AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003648223.2
Allele description [Variation Report for NM_001042432.2(CLN3):c.683del (p.Phe228fs)]
NM_001042432.2(CLN3):c.683del (p.Phe228fs)
Condition(s)
-
Campylobacter jejuni strain 11-DS-1_2, whole genome shotgun sequencing project
Campylobacter jejuni strain 11-DS-1_2, whole genome shotgun sequencing projectgi|2732949897|gb|JBDHNM000000000.1| M010000000Nucleotide
-
Campylobacter coli strain FECAL_5525-2_1, whole genome shotgun sequencing projec...
Campylobacter coli strain FECAL_5525-2_1, whole genome shotgun sequencing projectgi|2732949417|gb|JBDHOZ000000000.1| Z010000000Nucleotide
-
One Health Enteric sample from Campylobacter coli
One Health Enteric sample from Campylobacter colibiosample
-
One Health Enteric sample from Campylobacter jejuni
One Health Enteric sample from Campylobacter jejunibiosample
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024