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)
-
08q210 - Chromosomal Variation in Man
08q210 - Chromosomal Variation in Man
-
602562211F1 NIH_MGC_76 Homo sapiens cDNA clone IMAGE:4700138 5', mRNA sequence
602562211F1 NIH_MGC_76 Homo sapiens cDNA clone IMAGE:4700138 5', mRNA sequencegi|13525120|gnl|dbEST|8240018|gb|BG 0.1|Nucleotide
-
11q210 - Chromosomal Variation in Man
11q210 - Chromosomal Variation in Man
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Last Updated: Sep 29, 2024