chr19:11210898:G>C Detail (hg19) (LDLR)

Information

Genome

Assembly Position
hg19 chr19:11,210,898-11,210,898
hg38 chr19:11,100,222-11,100,222 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001195800.1:c.68-1G>C
NM_001195799.1:c.68-1G>C
NM_001195803.1:c.68-1G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 tgv61197736 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-03-25 criteria provided, multiple submitters, no conflicts Hypercholesterolemia, familial, 1 germline not applicable Detail
Pathogenic 2017-10-23 criteria provided, single submitter not provided germline Detail
Pathogenic 2018-06-21 criteria provided, single submitter germline Detail
Pathogenic 2023-11-28 criteria provided, single submitter familial hypercholesterolemia germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000527.5(LDLR):c.68-1G>C AND Hypercholesterolemia, familial, 1 ClinVar Detail
NM_000527.5(LDLR):c.68-1G>C AND not provided ClinVar Detail
NM_000527.5(LDLR):c.68-1G>C AND Cardiovascular phenotype ClinVar Detail
NM_000527.5(LDLR):c.68-1G>C AND Familial hypercholesterolemia ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs879254397 dbSNP
Genome
hg19
Position
chr19:11,210,898-11,210,898
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser