NM_000527.5(LDLR):c.2370_2389+20del AND Familial hypercholesterolemia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 8, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000809786.7
Allele description [Variation Report for NM_000527.5(LDLR):c.2370_2389+20del]
NM_000527.5(LDLR):c.2370_2389+20del
Condition(s)
-
RecName: Full=Protein disulfide-isomerase-like protein of the testis; Flags: Pre...
RecName: Full=Protein disulfide-isomerase-like protein of the testis; Flags: Precursorgi|172045780|sp|Q8N807.2|PDILT_HUMAProtein
-
IMPA2 [Equus asinus]
IMPA2 [Equus asinus]Gene ID:106823410Gene
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Last Updated: Sep 29, 2024