chr19:11106666:G>A 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	chr19:11,217,342-11,217,342 View the variant detail on this assembly version.
hg38	chr19:11,106,666-11,106,666

HGVS

LDLR

Type	Transcript	Protein
RefSeq	NM_001195800.1:c.314-726G>A
	NM_001195799.1:c.673G>A	NP_001182728.1:p.Asp225Asn
	NM_001195803.1:c.415G>A	NP_001182732.1:p.Asp139Asn
	NM_000527.4:c.796G>A	NP_000518.1:p.Asp266Asn
	NM_001195798.1:c.796G>A	NP_001182727.1:p.Asp266Asn
Ensemble	ENST00000252444.10:c.1054G>A	ENST00000252444.10:p.Asp352Asn
	ENST00000455727.6:c.314-726G>A
	ENST00000535915.5:c.673G>A	ENST00000535915.5:p.Asp225Asn
	ENST00000545707.5:c.415G>A	ENST00000545707.5:p.Asp139Asn
	ENST00000557933.5:c.796G>A	ENST00000557933.5:p.Asp266Asn
	ENST00000558013.5:c.796G>A	ENST00000558013.5:p.Asp266Asn
	ENST00000558518.6:c.796G>A	ENST00000558518.6:p.Asp266Asn
	ENST00000560467.2:c.796G>A	ENST00000560467.2:p.Asp266Asn

Summary

MGeND

Clinical significance	Likely pathogenic Pathogenic
Variant entry	2
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
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Likely pathogenic		pure hypercholesterolaemia	germline	MGS000031 (TMGS000069)	Mariko Shiba	National Cerebral and Cardiovascular Center
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	2022-05-04	reviewed by expert panel	Hypercholesterolemia, familial, 1	germline inherited	Detail
Pathogenic	2023-08-28	criteria provided, multiple submitters, no conflicts	familial hypercholesterolemia	germline unknown	Detail
Pathogenic	2022-09-12	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2019-04-16	criteria provided, single submitter	Homozygous familial hypercholesterolemia	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) AND Hypercholesterolemia, familial, 1	ClinVar	Detail
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) AND Familial hypercholesterolemia	ClinVar	Detail
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) AND not provided	ClinVar	Detail
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) 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: rs875989907 dbSNP
Genome: hg38
Position: chr19:11,106,666-11,106,666
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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