chr19:11100222:G>C Detail (hg38) (LDLR)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

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

HGVS

LDLR

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
	NM_000527.4:c.68-1G>C
	NM_001195798.1:c.68-1G>C
Ensemble	ENST00000252444.10:c.326-1G>C
	ENST00000455727.6:c.68-1G>C
	ENST00000535915.5:c.68-1G>C
	ENST00000545707.5:c.68-1G>C
	ENST00000557933.5:c.68-1G>C
	ENST00000558013.5:c.68-1G>C
	ENST00000558518.6:c.68-1G>C
	ENST00000560467.2:c.68-1G>C

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

LDLR

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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		pure hypercholesterolaemia	germline	MGS000031 (TMGS000069)	Mariko Shiba	National Cerebral and Cardiovascular Center

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

Descrption	Source	Links
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: hg38
Position: chr19:11,100,222-11,100,222
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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