PMID: 33269076

Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Biomedical reports
VV Miroshnikova, OV Romanova, ON Ivanova, MA Fedyakov, AA Panteleeva, YA Barbitoff, MV Muzalevskaya, SA Urazgildeeva, VS Gurevich, SP Urazov, SG Scherbak, AM Sarana, NA Semenova, IV Anisimova, DM Guseva, SN Pchelina, AS Glotov, EY Zakharova, OS Glotov
2021-01

39 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-241665793-C-G FH c.1186G>C p.Val396Leu Missense 8/10 -
19-11221435-C-T LDLR c.1048C>T p.Arg350* Nonsense 7/18 -
19-11222316-G-T LDLR c.1186+1G>T - IntronicSNV - 8/17
19-11216134-T-G LDLR c.552T>G p.Cys184Trp Missense 4/18 -
2-44102425-G-T ABCG8 c.1629G>T p.Arg543Ser Missense 11/13 -
19-11224330-TCT-T LDLR c.1478_1479delCT p.Ser493Cysfs*42 Frameshift 10/18 -
19-11224044-T-C LDLR c.1277T>C p.Leu426Pro Missense 9/18 -
19-11218190-CGGTGAGTCTCGGTGC-C LDLR c.940_940+14del15 - SpliceDonorDeletion 6/18 6/17
19-11226871-CCCAATGGC-C LDLR c.1688_1695delCCAATGGC p.Pro563Hisfs*14 Frameshift 11/18 -
19-11217344-T-A LDLR c.798T>A p.Asp266Glu Missense 5/18 -
19-11218137-G-A LDLR c.887G>A p.Cys296Tyr Missense 6/18 -
1-55524303-C-T PCSK9 c.1486C>T p.Arg496Trp Missense 9/12 -
19-11227559-G-C LDLR c.1730G>C p.Trp577Ser Missense 12/18 -
2-21229160-C-A APOB c.10580G>T p.Arg3527Leu Missense 26/29 -
19-11233939-C-T LDLR c.2230C>T p.Arg744* Nonsense 15/18 -
19-11218188-GC-AT LDLR c.938_939delinsAT - SpliceDonorBlockSubstitution 6/18 -
19-11218138-C-A LDLR c.888C>A p.Cys296* Nonsense 6/18 -
19-11210931-T-G LDLR c.100T>G p.Cys34Gly Missense 2/18 -
2-21230565-G-A APOB c.9175C>T p.Arg3059Cys Missense 26/29 -
19-11215983-G-C LDLR c.401G>C p.Cys134Ser Missense 4/18 -
19-11222315-G-C LDLR c.1186G>C p.Gly396Arg Missense 8/18 -
19-11215907-T-G LDLR c.325T>G p.Cys109Gly Missense 4/18 -
2-21224815-GCTG-G APOB c.13480_13482delCAG p.Gln4494delGln InFrameDeletion 29/29 -
19-11221373-G-A LDLR c.986G>A p.Cys329Tyr Missense 7/18 -
19-11222316-G-A LDLR c.1186+1G>A - IntronicSNV - 8/17
19-11227630-G-A LDLR c.1801G>A p.Asp601Asn Missense 12/18 -
19-11222315-G-A LDLR c.1186G>A p.Gly396Ser Missense 8/18 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11216014-G-GA LDLR c.432_433insA p.Val145Serfs*35 Frameshift 4/18 -
10-90982268-C-T LIPA c.894G>A p.Gln298Gln Synonymous 8/10 -
19-11216198-A-C LDLR c.616A>C p.Ser206Arg Missense 4/18 -
19-11216200-T-G LDLR c.618T>G p.Ser206Arg Missense 4/18 -
4-110901990-C-T EGF c.2230C>T p.Pro744Ser Missense 15/23 -
19-11223995-A-G LDLR c.1228A>G p.Arg410Gly Missense 9/18 -
2-44050063-G-A ABCG5 c.1336C>T p.Arg446* Nonsense 10/13 -
2-44099233-G-A ABCG8 c.1083G>A p.Trp361* Nonsense 7/13 -
19-11227604-G-A LDLR c.1775G>A p.Gly592Glu Missense 12/18 -
19-11218188-G-A LDLR c.938G>A p.Cys313Tyr Missense 6/18 -
19-11223969-T-A LDLR c.1202T>A p.Leu401His Missense 9/18 -