NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr) AND Neuronal ceroid lipofuscinosis 1
- Germline classification:
- Conflicting interpretations of pathogenicity (4 submissions)
- Last evaluated:
- Jun 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000049599.10
Allele description [Variation Report for NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr)]
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr)
Condition(s)
- Name:
- Neuronal ceroid lipofuscinosis 1 (CLN1)
- Synonyms:
- CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET; CLN1 variable age at onset; Infantile CLN (type of CLN1); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009744; MedGen: C1850451; OMIM: 256730
-
PREDICTED: Xiphophorus couchianus epithelial membrane protein 3-like (LOC1141415...
PREDICTED: Xiphophorus couchianus epithelial membrane protein 3-like (LOC114141538), transcript variant X3, mRNAgi|1570429713|ref|XM_028012130.1|Nucleotide
-
Bovine viral diarrhea virus partial 5'UTR region, genotype BVDV1a, strain MRI280...
Bovine viral diarrhea virus partial 5'UTR region, genotype BVDV1a, strain MRI2805gi|1220256907|emb|LT902912.1|Nucleotide
-
Bovine viral diarrhea virus partial 5'UTR region, genotype BVDV1b, strain MRI281...
Bovine viral diarrhea virus partial 5'UTR region, genotype BVDV1b, strain MRI2816gi|1220256915|emb|LT902920.1|Nucleotide
-
Bovine viral diarrhea virus partial 5'UTR region, genotype BVDV1a, strain MRI283...
Bovine viral diarrhea virus partial 5'UTR region, genotype BVDV1a, strain MRI2839gi|1220256934|emb|LT902939.1|Nucleotide
-
Bovine viral diarrhea virus partial 5'UTR region, genotype BVDV1a, strain MRI286...
Bovine viral diarrhea virus partial 5'UTR region, genotype BVDV1a, strain MRI2868gi|1220256955|emb|LT902960.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024
SCV000082006