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LDLRAP1

Analyte Export to PDF
Name:
low density lipoprotein receptor adaptor protein 1
Symbol:
LDLRAP1
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
ARH
ARH2
DKFZp586D0624
FHCB1
FHCB2
MGC34705
autosomal recessive hypercholesterolemia
XREF(s):
Orphanet
OMIM
Reactome
SwissProt
Ensembl
Genatlas
HGNC
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Dyslipidemia ( 13 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCG5 100.00 1 In case of hypercholesterolemia / NM_022436.2
    ABCG8 100.00 1 In case of hypercholesterolemia / NM_022437.2
    APOB 100.00 1 In case of hypercholesterolemia / NM_000384.2
    APOE 100.00 1 In case of hypercholesterolemia / NM_000041.3
    LDLR 100.00 1 In case of hypercholesterolemia / NM_000527.4
    LDLRAP1 100.00 1 In case of hypercholesterolemia / NM_015627.2
    LIPA 100.00 1 In case of hypercholesterolemia / NM_000235.3
    PCSK9 100.00 1 In case of hypercholesterolemia / NM_174936.3
    LPL 100.00 1 In case of hypertriglyceridemia / NM_000237.2
    APOC2 100.00 1 In case of hypertriglyceridemia / NM_000483.4
    APOA5 100.00 1 In case of hypertriglyceridemia / NM_052968.4
    GPIHBP1 100.00 1 In case of hypertriglyceridemia / NM_178172.5
    LMF1 100.00 1 In case of hypertriglyceridemia / NM_022773.3
  • Familial Hypercholesterolemia (9 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APOB 100.00 1 NM_000384.3
    APOE 100.00 1 NM_000041.4
    LDLR 100.00 1 NM_000527.5
    LDLRAP1 100.00 1 NM_015627.3
    PCSK9 100.00 1 NM_174936.4
    ABCG5 100.00 1 NM_022436.3
    ABCG8 100.00 1 NM_022437.3
    LIPA 100.00 1 NM_000235.4
    STAP1 100.00 1 NM_012108.4
  • Familial Hypercholesterolemia panel (8 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    LDLR
    APOB
    APOE
    PCSK9
    LDLRAP1
    LIPA
    ABCG5
    ABCG8
  • Familial Hypercholesterolemia panel (9 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    LDLR 100.00 1 only for 5'UTR + coding exons + intronic borders +/-14pb
    APOB 99.79 0 only for coding exons and intronic borders +/-14pb Exons 26 and 29 are entirely covered at 30x Exon 1 is not covered
    APOE 100.00 0 only for coding exons and intronic borders +/-14pb
    PCSK9 100.00 0 only for coding exons and intronic borders +/-14pb
    LDLRAP1 98.69 0 only for coding exons and intronic borders +/-14pb exon 1 is not covered
    LIPA 100.00 0 only for coding exons and intronic borders +/-14pb
    ABCG5 100.00 0 only for coding exons and intronic borders +/-14pb
    ABCG8 100.00 0 only for coding exons and intronic borders +/-14pb
    STAP1 100.00 0 only for coding exons and intronic borders +/-14pb
  • Hypercholesterolemia (9 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    LDLR 100.00 1
    APOB 100.00 1
    PCSK9 100.00 1
    ABCG5 100.00 1
    ABCG8 100.00 1
    APOE 100.00 1
    LDLRAP1 100.00 1
    LIPA 100.00 1
    STAP1 100.00 1