NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) AND Niemann-Pick disease, type C
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jun 9, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000781673.7
Allele description [Variation Report for NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)]
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)
Condition(s)
- Name:
- Niemann-Pick disease, type C (NPC)
- Identifiers:
- MONDO: MONDO:0018982; MedGen: C0220756
-
1391227[uid] (1)
Taxonomy
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 20, 2024