NM_000310.4(PPT1):c.328A>G (p.Asn110Asp) AND Neuronal ceroid lipofuscinosis 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002050341.5
Allele description [Variation Report for NM_000310.4(PPT1):c.328A>G (p.Asn110Asp)]
NM_000310.4(PPT1):c.328A>G (p.Asn110Asp)
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
-
Homo sapiens cDNA FLJ32463 fis, clone SKNMC1000240, weakly similar to CYCLIN-DEP...
Homo sapiens cDNA FLJ32463 fis, clone SKNMC1000240, weakly similar to CYCLIN-DEPENDENT KINASE INHIBITOR 1Cgi|16552591|dbj|AK057025.1|Nucleotide
-
TSA: Macaca mulatta Mamu_502428 mRNA sequence
TSA: Macaca mulatta Mamu_502428 mRNA sequencegi|380814265|gnl|bpid:PRJNA77627|Ma 2428|gb|JU335254.1|Nucleotide
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Last Updated: Sep 29, 2024