rs121908325
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.
|
27247956 |
2016 |
rs781585299
|
|
AC |
0.700 |
CausalMutation |
CLINVAR |
Altered metabolism of low-density lipoprotein and very-low-density lipoprotein remnant in autosomal recessive hypercholesterolemia: results from stable isotope kinetic study in vivo.
|
22157599 |
2012 |
rs781585299
|
|
AC |
0.700 |
CausalMutation |
CLINVAR |
A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.
|
21872251 |
2011 |
rs755104973
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Autosomal recessive hypercholesterolaemia: normalization of plasma LDL cholesterol by ezetimibe in combination with statin treatment.
|
15485476 |
2004 |
rs781585299
|
|
AC |
0.700 |
CausalMutation |
CLINVAR |
Clinical features and genetic analysis of autosomal recessive hypercholesterolemia.
|
12788851 |
2003 |
rs755104973
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1.
|
12464675 |
2002 |
rs755104973
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia.
|
12016260 |
2002 |
rs781585299
|
|
AC |
0.700 |
CausalMutation |
CLINVAR |
Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1.
|
12464675 |
2002 |
rs1201229554
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.
|
11326085 |
2001 |
rs121908325
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.
|
11326085 |
2001 |
rs755104973
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.
|
11326085 |
2001 |
rs386629678
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs1019504966
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A new variant (c.1A>G) in LDLRAP1 causing autosomal recessive hypercholesterolemia: Characterization of the defect and response to PCSK9 inhibition.
|
30777337 |
2019 |
rs374045590
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Despite the analogous internalization defect predicted in ARH and homozygous LDLR:p.(Asn825Lys) lymphocytes, LDL uptake was higher in the former than in the latter.
|
30777337 |
2019 |
rs879254382
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A new variant (c.1A>G) in LDLRAP1 causing autosomal recessive hypercholesterolemia: Characterization of the defect and response to PCSK9 inhibition.
|
30777337 |
2019 |
rs121908324
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Defects are most marked in ARH W22X cells, where translation starts at Met46, so the protein lacks a phosphorylation site at Ser14, identified by mass spectrometry of wild-type ARH.
|
21778424 |
2011 |