chr19:11105319:C>G Detail (hg38) (LDLR)

Information

Genome

Assembly Position
hg19 chr19:11,215,995-11,215,995 View the variant detail on this assembly version.
hg38 chr19:11,105,319-11,105,319

HGVS

Type Transcript Protein
RefSeq NM_001195800.1:c.314-2073C>G
NM_001195799.1:c.290C>G NP_001182728.1:p.Ser97Ter
NM_001195803.1:c.314-1246C>G
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 Likely 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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic pure hypercholesterolaemia germline MGS000034
(TMGS000076) 		Mariko Shiba
Hayato Tada		 National Cerebral and Cardiovascular Center
Kanazawa university
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-03-25 criteria provided, single submitter Hypercholesterolemia, familial, 1 germline Detail
Pathogenic 2022-05-20 criteria provided, single submitter familial hypercholesterolemia germline Detail
Likely pathogenic 2019-04-16 criteria provided, single submitter Homozygous familial hypercholesterolemia germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000527.5(LDLR):c.413C>G (p.Ser138Ter) AND Hypercholesterolemia, familial, 1 ClinVar Detail
NM_000527.5(LDLR):c.413C>G (p.Ser138Ter) AND Familial hypercholesterolemia ClinVar Detail
NM_000527.5(LDLR):c.413C>G (p.Ser138Ter) AND Homozygous familial hypercholesterolemia ClinVar 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
rs755799528 dbSNP
Genome
hg38
Position
chr19:11,105,319-11,105,319
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8616
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)
120826
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)
1.655272871732905E-5
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