NM_000271.5(NPC1):c.2848G>A (p.Val950Met) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 27, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000212760.2
Allele description
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)
Condition(s)
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Sep 29, 2021