PMID: 23669246

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.

Atherosclerosis

M Futema, RA Whittall, A Kiley, LK Steel, JA Cooper, E Badmus, SE Leigh, F Karpe, HA Neil, , SE Humphries

2013-07

22 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
19-11216133-G-A	LDLR	c.551G>A	p.Cys184Tyr	Missense	4/18	-
19-11240275-C-A	LDLR	c.2476C>A	p.Pro826Thr	Missense	17/18	-
19-11231156-G-A	LDLR	c.2098G>A	p.Asp700Asn	Missense	14/18	-
19-11216273-CTGC-C	LDLR	c.691_693delTGC	p.Cys231delCys	InFrameDeletion	4/18	-
2-21229160-C-T	APOB	c.10580G>A	p.Arg3527Gln	Missense	26/29	-
19-11213450-G-A	LDLR	c.301G>A	p.Glu101Lys	Missense	3/18	-
19-11215944-G-C	LDLR	c.362G>C	p.Cys121Ser	Missense	4/18	-
1-241667401-CG-TA	FH	c.1048_1049delCGinsTA	p.Arg350*	Nonsense	7/10	-
19-11216211-T-A	LDLR	c.629T>A	p.Ile210Asn	Missense	4/18	-
19-11231112-C-T	LDLR	c.2054C>T	p.Pro685Leu	Missense	14/18	-
19-11223997-G-T	LDLR	c.1230G>T	p.Arg410Ser	Missense	9/18	-
19-11223997-G-C	LDLR	c.1230G>C	p.Arg410Ser	Missense	9/18	-
1-241671948-CAATCTTGATGATCTGTGCAAACTCTTT-C	FH	c.667_693del27	p.Lys223_ile231del	InFrameDeletion	5/10	-
19-11218109-G-A	LDLR	c.859G>A	p.Gly287Ser	Missense	6/18	-
8-133900239-CCTGTCAATTAC-C	TG	c.2187_2197del11	p.Cys730Valfs*2	Frameshift	10/48	-
19-11216262-GAC-G	LDLR	c.680_681delAC	p.Asp227Glyfs*12	Frameshift	4/18	-
19-11218148-A-T	LDLR	c.898A>T	p.Arg300*	Nonsense	6/18	-
19-11216263-C-G	LDLR	c.681C>G	p.Asp227Glu	Missense	4/18	-
19-11216263-C-A	LDLR	c.681C>A	p.Asp227Glu	Missense	4/18	-
19-11213408-T-G	LDLR	c.259T>G	p.Trp87Gly	Missense	3/18	-
1-55523127-G-T	PCSK9	c.1120G>T	p.Asp374Tyr	Missense	7/12	-
19-11215943-T-A	LDLR	c.361T>A	p.Cys121Ser	Missense	4/18	-