chr19:11210912:C>G Detail (hg19) (LDLR)

Information

Genome

Assembly Position
hg19 chr19:11,210,912-11,210,912
hg38 chr19:11,100,236-11,100,236 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001195800.1:c.81C>G NP_001182729.1:p.Cys27Trp
NM_001195799.1:c.81C>G NP_001182728.1:p.Cys27Trp
NM_001195803.1:c.81C>G NP_001182732.1:p.Cys27Trp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 606945 OMIM
HGNC 6547 HGNC
Ensembl ENSG00000130164 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-05-06 reviewed by expert panel Hypercholesterolemia, familial, 1 germline paternal unknown Detail
Pathogenic Likely pathogenic 2024-01-29 criteria provided, multiple submitters, no conflicts familial hypercholesterolemia germline Detail
Pathogenic 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2023-09-29 criteria provided, single submitter germline Detail
Likely pathogenic 2021-12-05 criteria provided, single submitter unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.167 Coronary heart disease Meta-analysis of low density lipoprotein receptor (LDLR) rs2228671 polymorphism ... BeFree 24900971 Detail
0.019 Coronary Arteriosclerosis Meta-analysis of low density lipoprotein receptor (LDLR) rs2228671 polymorphism ... BeFree 24900971 Detail
0.123 Coronary heart disease The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARC... BeFree 20810930 Detail
<0.001 Coronary Arteriosclerosis The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARC... BeFree 20810930 Detail
0.126 coronary artery disease The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARC... BeFree 20810930 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp) AND Hypercholesterolemia, familial, 1 ClinVar Detail
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp) AND Familial hypercholesterolemia ClinVar Detail
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp) AND not provided ClinVar Detail
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp) AND Cardiovascular phenotype ClinVar Detail
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp) AND See cases ClinVar Detail
Meta-analysis of low density lipoprotein receptor (LDLR) rs2228671 polymorphism and coronary heart d... DisGeNET Detail
Meta-analysis of low density lipoprotein receptor (LDLR) rs2228671 polymorphism and coronary heart d... DisGeNET Detail
The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARCA4-LDLR gene locus (... DisGeNET Detail
The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARCA4-LDLR gene locus (... DisGeNET Detail
The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARCA4-LDLR gene locus (... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr19:11,210,912-11,210,912
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8634
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121058
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6521006459713525E-5
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