NM_000271.5(NPC1):c.435A>G (p.Gln145=) AND Niemann-Pick disease, type C1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000974797.8
Allele description [Variation Report for NM_000271.5(NPC1):c.435A>G (p.Gln145=)]
NM_000271.5(NPC1):c.435A>G (p.Gln145=)
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
-
preimmunoglobulin heavy chain binding protein [Rattus norvegicus]
preimmunoglobulin heavy chain binding protein [Rattus norvegicus]gi|203151|gb|AAA40817.1|Protein
-
Ap3m2 adaptor-related protein complex 3, mu 2 subunit [Mus musculus]
Ap3m2 adaptor-related protein complex 3, mu 2 subunit [Mus musculus]Gene ID:64933Gene
-
64933[uid] AND (alive[prop]) (1)
Gene
-
EST378366 MAGE resequences, MAGI Homo sapiens cDNA, mRNA sequence
EST378366 MAGE resequences, MAGI Homo sapiens cDNA, mRNA sequencegi|8156129|gnl|dbEST|4471787|gb|AW9 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024