PMID: 34875256

Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH Registry?

Indian heart journal
Reddy, Lakshmi Lavanya LL, Shah, Swarup A V SAV, Ashavaid, Tester F TF
2021-12-04

56 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11224270-T-A LDLR c.1418T>A p.I473N Missense 10/18 -
19-45412310-C-T APOE c.757C>T p.Q253* Nonsense 4/4 -
1-55521832-C-T PCSK9 c.966C>T p.A322= Synonymous 6/12 -
2-44078911-G-A ABCG8 c.511G>A p.A171T Missense 4/13 -
19-11222190-A-G LDLR c.1061A>G p.D354G Missense 8/18 -
19-11222195-G-T LDLR c.1066G>T p.D356Y Missense 8/18 -
19-11226817-G-A LDLR c.1634G>A p.G545E Missense 11/18 -
19-11230883-T-C LDLR c.1961T>C p.L654P Missense 13/18 -
19-11231130-C-A LDLR c.2072C>A p.S691* Nonsense 14/18 -
19-11233951-G-A LDLR c.2242G>A p.D748N Missense 15/18 -
19-11216029-T-C LDLR c.447T>C p.G149= Synonymous 4/18 -
19-11217258-C-T LDLR c.712C>T p.P238S Missense 5/18 -
1-55518385-C-T PCSK9 c.720C>T p.G240= Synonymous 5/12 -
1-241682980-C-CCAG FH c.42_43insCTG p.L14dup InFrameInsertion 1/10 -
8-19816871-T-G LPL c.1119T>G p.S373R Missense 7/10 -
8-19816871-T-A LPL c.1119T>A p.S373R Missense 7/10 -
8-19816869-A-C LPL c.1117A>C p.S373R Missense 7/10 -
8-59409174-A-C CYP7A1 c.897T>G p.F299L Missense 3/6 -
1-55523082-G-A PCSK9 c.1075G>A p.V359M Missense 7/12 -
19-11218147-T-G LDLR c.897T>G p.A299= Synonymous 6/18 -
1-55527143-G-C PCSK9 c.1777G>C p.E593Q Missense 11/12 -
1-241661175-G-A FH c.1486C>T p.Q496* Nonsense 10/10 -
19-11215907-T-A LDLR c.325T>A p.C109S Missense 4/18 -
19-11215928-T-C LDLR c.346T>C p.C116R Missense 4/18 -
1-55512209-C-G PCSK9 c.413C>G p.P138R Missense 3/12 -
1-55512315-C-G PCSK9 c.519C>G p.P173= Synonymous 3/12 -
1-55524237-G-A PCSK9 c.1420G>A p.V474I Missense 9/12 -
19-11224239-CT-C LDLR c.1387delT p.S463Lfs*44 Frameshift 10/18 -
1-55524216-GCC-G PCSK9 c.1399_1400delCC p.P467Yfs*14 Frameshift 9/12 -
19-11222199-GA-G LDLR c.1070delA p.E357Gfs*13 Frameshift 8/18 -
19-11233994-TG-T LDLR c.2287delG p.E763Rfs*2 Frameshift 15/18 -
19-11224052-G-A LDLR c.1285G>A p.V429M Missense 9/18 -
1-55524304-G-A PCSK9 c.1487G>A p.R496Q Missense 9/12 -
9-107589238-C-G ABCA1 c.2328G>C p.K776N Missense 16/50 -
9-107591399-C-T ABCA1 c.1913G>A p.R638Q Missense 15/50 -
19-11226801-G-A LDLR c.1618G>A p.A540T Missense 11/18 -
19-11227612-C-T LDLR c.1783C>T p.R595W Missense 12/18 -
8-19805708-G-A LPL c.106G>A p.D36N Missense 2/10 -
19-11240210-T-TG LDLR c.2416_2416dup p.V806Gfs*11 Frameshift 17/18 -
19-11216112-C-T LDLR c.530C>T p.S177L Missense 4/18 -
19-11238761-G-A LDLR c.2389G>A p.V797M Missense 16/18 -
19-45411064-G-A APOE c.91G>A p.E31K Missense 3/4 -
19-11213450-G-A LDLR c.301G>A p.E101K Missense 3/18 -
19-11240195-T-G LDLR c.2396T>G p.L799R Missense 17/18 -
1-55523033-A-G PCSK9 c.1026A>G p.Q342= Synonymous 7/12 -
1-55524197-A-G PCSK9 c.1380A>G p.V460= Synonymous 9/12 -
19-11216172-G-A LDLR c.590G>A p.C197Y Missense 4/18 -
19-11224089-T-C LDLR c.1322T>C p.I441T Missense 9/18 -
9-107584879-C-T ABCA1 c.2726G>A p.R909Q Missense 19/50 -
19-11231056-G-A LDLR c.1998G>A p.W666* Nonsense 14/18 -
19-11218112-G-A LDLR c.862G>A p.E288K Missense 6/18 -
2-44102516-G-A ABCG8 c.1720G>A p.G574R Missense 11/13 -
2-44102516-G-C ABCG8 c.1720G>C p.G574R Missense 11/13 -
1-241675292-G-A FH c.530C>T p.P177L Missense 4/10 -
9-107646756-G-A ABCA1 c.254C>T p.P85L Missense 4/50 -
9-107579633-T-C ABCA1 c.3515A>G p.E1172G Missense 24/50 -