NM_000271.5(NPC1):c.1191G>A (p.Gln397=) AND Niemann-Pick disease, type C1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 8, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001454006.7
Allele description [Variation Report for NM_000271.5(NPC1):c.1191G>A (p.Gln397=)]
NM_000271.5(NPC1):c.1191G>A (p.Gln397=)
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
-
Homo sapiens proteasome 20S subunit alpha 7 (PSMA7), RefSeqGene on chromosome 20
Homo sapiens proteasome 20S subunit alpha 7 (PSMA7), RefSeqGene on chromosome 20gi|1024846780|ref|NG_046998.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024