chr19:11131982:T>C Detail (hg38) (LDLR)

Information

Genome

Assembly Position
hg19 chr19:11,242,658-11,242,658 View the variant detail on this assembly version.
hg38 chr19:11,131,982-11,131,982

HGVS

Type Transcript Protein
RefSeq NM_000527.4:c.*666T>C
NM_001195798.1:c.*666T>C
Ensemble ENST00000252444.10:c.*666T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.709
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign Likely benign
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 tgv61201205 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2018-01-13 criteria provided, multiple submitters, no conflicts Hypercholesterolemia, familial, 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.126 coronary artery disease CAD association was replicated and/or verified for 4 loci: SORT1 rs611917 (p=1.7... BeFree 23050023 Detail
0.125 coronary artery disease CAD association was replicated and/or verified for 4 loci: SORT1 rs611917 (p=1.7... BeFree 23050023 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000527.5(LDLR):c.*666T>C AND Hypercholesterolemia, familial, 1 ClinVar Detail
CAD association was replicated and/or verified for 4 loci: SORT1 rs611917 (p=1.7 × 10(-8)), APOA5 rs... DisGeNET Detail
CAD association was replicated and/or verified for 4 loci: SORT1 rs611917 (p=1.7 × 10(-8)), APOA5 rs... 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
-
dbSNP
rs1433099 dbSNP
Genome
hg38
Position
chr19:11,131,982-11,131,982
Variant Type
snv
Reference Allele
T
Alternative Allele
C
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1433099
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7088
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11879
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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