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rs112029328

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 dominant mutation leading to Familial Hypercholesterolemia
(A;G) 4 dominant mutation leading to Familial Hypercholesterolemia
(G;G) 0 common in complete genomics
(G;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
ReferenceGRCh38 38.1/141
Chromosome19
Position11102787
GeneLDLR
is asnp
is mentioned by
dbSNPrs112029328
dbSNP (old)rs112029328
ClinGenrs112029328
ebirs112029328
HLIrs112029328
Exacrs112029328
Varsomers112029328
Maprs112029328
PheGenIrs112029328
Biobankrs112029328
1000 genomesrs112029328
hgdprs112029328
ensemblrs112029328
gopubmedrs112029328
geneviewrs112029328
scholarrs112029328
googlers112029328
pharmgkbrs112029328
gwascentralrs112029328
openSNPrs112029328
23andMers112029328
23andMe allrs112029328
SNP Nexus

SNPshotrs112029328
SNPdbers112029328
MSV3drs112029328
GWAS Ctlgrs112029328
Max Magnitude4
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 19602640OA-icon.png] The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.