NM_000271.5(NPC1):c.1401C>T (p.Ile467=) AND Niemann-Pick disease, type C1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 3, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002221108.6
Allele description [Variation Report for NM_000271.5(NPC1):c.1401C>T (p.Ile467=)]
NM_000271.5(NPC1):c.1401C>T (p.Ile467=)
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
-
SRX6981285 (1)
SRA
-
Zygodontomys brevicauda recombination activating protein 1 (RAG1) gene, partial ...
Zygodontomys brevicauda recombination activating protein 1 (RAG1) gene, partial cdsgi|549440489|gb|KC953596.1|Nucleotide
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hCG1995022, isoform CRA_d [Homo sapiens]
hCG1995022, isoform CRA_d [Homo sapiens]gi|119602676|gb|EAW82270.1||gnl|WGS |hCP1872095Protein
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Rajidae 16S ribosomal RNA gene, partial sequence; mitochondrial.
Rajidae 16S ribosomal RNA gene, partial sequence; mitochondrial.PopSet: 308217494PopSet
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Last Updated: Sep 29, 2024