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  2. STAP1

STAP1

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Name:
signal transducing adaptor family member 1
Symbol:
STAP1
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
BCR downstream signaling 1
BRDG1
STAP-1
XREF(s):
Orphanet
Genatlas
OMIM
Reactome
SwissProt
HGNC
Ensembl
Created:
20 Aug 2021 - 01:08
Changed:
22 Jun 2023 - 16:14
  • 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