PMID: 31227787

Genetic markers of lipid metabolism genes associated with low susceptibility to HCV infection.

Scientific reports
LM Real, J Macías, A Rivero-Juárez, F Téllez, D Merino, S Moreno-Grau, A Orellana, J Gómez-Salgado, ME Sáez, M Frías, A Corma-Gómez, N Merchante, A Ruiz, A Caruz, JA Pineda,
2019-06-21

16 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-25890835-G-A LDLRAP1 c.747+553G>A - IntronicSNV - 7/8
2-21225281-C-T APOB c.13013G>A p.Ser4338Asn Missense 29/29 -
9-2623615-G-C VLDLR c.82+1344G>C - IntronicSNV - 1/18
1-25889632-T-A LDLRAP1 c.604T>A p.Ser202Thr Missense 6/9 -
1-25890189-A-G LDLRAP1 c.654A>G p.Thr218Thr Synonymous 7/9 -
9-2623615-G-A VLDLR c.82+1344G>A - IntronicSNV - 1/18
1-25894853-G-T LDLRAP1 c.*1370G>T - 3-UTRSNV 9/9 -
1-55525868-C-T PCSK9 c.1681+532C>T - IntronicSNV - 10/11
1-25889632-T-G LDLRAP1 c.604T>G p.Ser202Ala Missense 6/9 -
1-25889632-T-C LDLRAP1 c.604T>C p.Ser202Pro Missense 6/9 -
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
1-55518752-C-T PCSK9 c.799+288C>T - IntronicSNV - 5/11
8-19819724-C-G LPL c.1421C>G p.Ser474* Nonsense 9/10 -
19-11230881-T-C LDLR c.1959T>C p.Val653Val Synonymous 13/18 -
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
9-2633548-T-C VLDLR c.83-1905T>C - IntronicSNV - 1/18