chr19:11216045:T>C Detail (hg19) (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	chr19:11,216,045-11,216,045
hg38	chr19:11,105,369-11,105,369 View the variant detail on this assembly version.

HGVS

LDLR

Type	Transcript	Protein
RefSeq	NM_001195800.1:c.314-2023T>C
	NM_001195799.1:c.340T>C	NP_001182728.1:p.Cys114Arg
	NM_001195803.1:c.314-1196T>C
	NM_000527.4:c.463T>C	NP_000518.1:p.Cys155Arg
	NM_001195798.1:c.463T>C	NP_001182727.1:p.Cys155Arg
Ensemble	ENST00000252444.10:c.721T>C	ENST00000252444.10:p.Cys241Arg
	ENST00000455727.6:c.314-2023T>C
	ENST00000535915.5:c.340T>C	ENST00000535915.5:p.Cys114Arg
	ENST00000545707.5:c.314-1196T>C
	ENST00000557933.5:c.463T>C	ENST00000557933.5:p.Cys155Arg
	ENST00000558013.5:c.463T>C	ENST00000558013.5:p.Cys155Arg
	ENST00000558518.6:c.463T>C	ENST00000558518.6:p.Cys155Arg
	ENST00000560467.2:c.463T>C	ENST00000560467.2:p.Cys155Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2019-06-05	criteria provided, multiple submitters, no conflicts	Hypercholesterolemia, familial, 1	germline	Detail
Likely pathogenic	2019-01-17	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000527.5(LDLR):c.463T>C (p.Cys155Arg) AND Hypercholesterolemia, familial, 1	ClinVar	Detail
NM_000527.5(LDLR):c.463T>C (p.Cys155Arg) AND Cardiovascular phenotype	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: rs879254535 dbSNP
Genome: hg19
Position: chr19:11,216,045-11,216,045
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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