NM_000271.5(NPC1):c.3811G>C (p.Glu1271Gln) AND Niemann-Pick disease, type C1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002535119.2
Allele description [Variation Report for NM_000271.5(NPC1):c.3811G>C (p.Glu1271Gln)]
NM_000271.5(NPC1):c.3811G>C (p.Glu1271Gln)
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
-
Sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphor...
Sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E [Mus musculus]gi|37046741|gb|AAH57956.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024