NM_000271.5(NPC1):c.3347del (p.Leu1116fs) AND Niemann-Pick disease, type C1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002284101.1
Allele description [Variation Report for NM_000271.5(NPC1):c.3347del (p.Leu1116fs)]
NM_000271.5(NPC1):c.3347del (p.Leu1116fs)
Condition(s)
- Name:
- Niemann-Pick disease, type C1
- Synonyms:
- NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY; Niemann-Pick disease with cholesterol esterification block; Niemann-Pick disease, chronic neuronopathic form; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009757; MedGen: C3179455; Orphanet: 646; OMIM: 257220
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Leuconostoc mesenteroides strain 11443 phenylalanyl-tRNA synthetase subunit alph...
Leuconostoc mesenteroides strain 11443 phenylalanyl-tRNA synthetase subunit alpha (pheS) gene, partial cdsgi|1275020591|gb|KY224929.2|Nucleotide
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Leuconostoc mesenteroides strain 11461 phenylalanyl-tRNA synthetase subunit alph...
Leuconostoc mesenteroides strain 11461 phenylalanyl-tRNA synthetase subunit alpha (pheS) gene, partial cdsgi|1275020595|gb|KY224931.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 24, 2022