NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser) AND Niemann-Pick disease, type C1
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Nov 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001127620.8
Allele description [Variation Report for NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser)]
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser)
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
Assertion and evidence details
Last Updated: Sep 29, 2024