ABCA1 p.Asn1948Ser
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An analysis using these updated phenotypes identified a candidate variant in LDLR (p.E228K, also known as FH Modena, previously shown to be pathogenic25 ) that was subsequently confirmed to Table.ߓ Genetic Etiologies Identified From Exome Sequencing Family (Trait) Gene Genomic position* Reference allele Alternate allele Effectߤ Notes Genetic etiology discovered during initial exome sequencing analysis A4 (high LDL) APOB 2:21229554 C T p.A3396T ߥ A9 (high LDL) PCSK9 1:55509689 T A p.S127R &#a7; B2 (low LDL) APOB 2:21233022 T A p.K2240* ৷ B13 (low LDL) APOB 2:21229005 - G p.T3579Hfs*34 # C1 (low HDL) ABCA1 9:107553287 T C p.N1948S ** Genetic etiology discovered from follow-up analysis A1 (high LDL) APOE 19:45412048 CTC - p.L167del ߥߥ A10 (high LDL) APOE 19:45412048 CTC - p.L167del ߥߥ A13 (high LDL) LIPA 10:90982268 C T Disruption of donor splice site ߥߥ Genetic etiology discovered based on phenotypic refinement within the family A7 (high LDL) LDLR 19:11216264 G A p.E228K &#a7;&#a7; HDL indicates high-density lipoprotein; and LDL, low-density lipoprotein.
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ABCA1 p.Asn1948Ser 25632026:112:654
status: NEW