NM_000271.5(NPC1):c.2736_2751del (p.Met912fs) 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:
- RCV002284083.1
Allele description [Variation Report for NM_000271.5(NPC1):c.2736_2751del (p.Met912fs)]
NM_000271.5(NPC1):c.2736_2751del (p.Met912fs)
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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LRRFIP1 LRR binding FLII interacting protein 1 [Homo sapiens]
LRRFIP1 LRR binding FLII interacting protein 1 [Homo sapiens]Gene ID:9208Gene
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Gene Links for GEO Profiles (Select 103432970) (1)
Gene
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Profile neighbors for GEO Profiles (Select 103423432) (200)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Sep 24, 2022