rs112029328

plus

Geno	Mag	Summary
(A;A)	4	dominant mutation leading to Familial Hypercholesterolemia
(A;G)	5	Familial Hypercholesterolemia
(C;G)	5	Familial Hypercholesterolemia
(G;G)	0	common in complete genomics
(G;T)	5	Familial Hypercholesterolemia

Reference

GRCh38 38.1/141

Chromosome

19

Position

11102787

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs112029328
dbSNP (classic)	rs112029328
ClinGen	rs112029328
ebi	rs112029328
HLI	rs112029328
Exac	rs112029328
Gnomad	rs112029328
Varsome	rs112029328
LitVar	rs112029328
Map	rs112029328
PheGenI	rs112029328
Biobank	rs112029328
1000 genomes	rs112029328
hgdp	rs112029328
ensembl	rs112029328
geneview	rs112029328
scholar	rs112029328
google	rs112029328
pharmgkb	rs112029328
gwascentral	rs112029328
openSNP	rs112029328
23andMe	rs112029328
SNPshot	rs112029328
SNPdbe	rs112029328
MSV3d	rs112029328
GWAS Ctlg	rs112029328

Max Magnitude

5

The A allele of this SNP in the low density lipoprotein receptor (LDLR) gene, which is a dominant mutation that provokes a skip of exon 3, leads to a form of familial hypercholesterolemia [PMID 7749829] that appears to be the same as FH Elverum (see OMIM 606945.0054).

Another mutation at this SNP changes the normal G to a T; this is also associated with familial hypercholesterolemia. 10.1016/j.jacc.2016.03.520

These mutations are also known as c.313+1G>A and c.313+1G>T.

ClinVar
Risk	Rs112029328(A;A) rs112029328(C;C) rs112029328(T;T)
Alt	Rs112029328(A;A) rs112029328(C;C) rs112029328(T;T)
Reference	Rs112029328(G;G)
Significance	Other
Disease	Familial hypercholesterolemia not provided
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia not provided
Reversed	0
HGVS	NC_000019.9:g.11213463G>A; NC_000019.9:g.11213463G>C; NC_000019.9:g.11213463G>T
CLNSRC	LDLR @ LOVD OMIM Allelic Variant
CLNACC	RCV000003934.10, RCV000058917.1, RCV000213674.3, RCV000238235.1,

[PMID 19602640 ] The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.