NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) AND Niemann-Pick disease, type C1
- Germline classification:
- Benign/Likely benign (4 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000543632.18
Allele description [Variation Report for NM_000271.5(NPC1):c.3441C>T (p.Ile1147=)]
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=)
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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Trichoplusia ni isolate:ovarian cell line Hi5
Trichoplusia ni isolate:ovarian cell line Hi5Trichoplusia ni isolate:ovarian cell line Hi5 Genome sequencing and assemblyBioProject
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BioProject Links for Nucleotide (Select 1339345212) (1)
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024