NM_174936.4(PCSK9):c.*152G>T AND Familial hypobetalipoproteinemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000391291.6
Allele description [Variation Report for NM_174936.4(PCSK9):c.*152G>T]
NM_174936.4(PCSK9):c.*152G>T
Condition(s)
- Name:
- Familial hypobetalipoproteinemia (FHBL)
- Synonyms:
- Hypobetalipoproteinemia, familial, associated with apob39; Hypobetalipoproteinemia, familial, associated with apob40; Hypobetalipoproteinemia, familial, associated with apob90 or apob89; See all synonyms [MedGen]
- Identifiers:
- MedGen: C1862596
-
unnamed protein product [Mus musculus]
unnamed protein product [Mus musculus]gi|26331622|dbj|BAC29541.1|Protein
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Last Updated: Aug 5, 2023