NM_000271.5(NPC1):c.1800del (p.Ile601fs) AND Niemann-Pick disease, type C1
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Feb 21, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000119328.1
Allele description [Variation Report for NM_000271.5(NPC1):c.1800del (p.Ile601fs)]
NM_000271.5(NPC1):c.1800del (p.Ile601fs)
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
-
Alburnus carinatus isolate Ex19B7 cytochrome oxidase subunit I gene, partial cds...
Alburnus carinatus isolate Ex19B7 cytochrome oxidase subunit I gene, partial cds; mitochondrialgi|610488146|gb|KJ552425.1|Nucleotide
-
HK1 [Rhinolophus ferrumequinum]
HK1 [Rhinolophus ferrumequinum]Gene ID:117036227Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jun 7, 2022