NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) AND Niemann-Pick disease, type C
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 26, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000321958.4
Allele description [Variation Report for NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)]
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
Condition(s)
- Name:
- Niemann-Pick disease, type C (NPC)
- Identifiers:
- MONDO: MONDO:0018982; MedGen: C0220756
Assertion and evidence details
Last Updated: May 19, 2024