chr19:11131316:AACAT> 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	chr19:11,241,992-11,241,996
hg38	chr19:11,131,316-11,131,320

HGVS

LDLR

Type	Transcript	Protein
RefSeq	NM_001195800.1:c.2079_*4delAACAT	NP_001182729.1:p.Ter693CysfsTer?
	NM_001195799.1:c.2460_*4delAACAT	NP_001182728.1:p.Ter820CysfsTer69
	NM_001195803.1:c.2049_*4delAACAT	NP_001182732.1:p.Ter683CysfsTer69
	NM_000527.4:c.2583_*4delAACAT	NP_000518.1:p.Ter861CysfsTer69
	NM_001195798.1:c.2583_*4delAACAT	NP_001182727.1:p.Ter861CysfsTer69
Ensemble	ENST00000252444.10:c.2841_*4delAACAT	ENST00000252444.10:p.Ter947CysfsTer69
	ENST00000455727.6:c.2079_*4delAACAT	ENST00000455727.6:p.Ter693CysfsTer?
	ENST00000535915.5:c.2460_*4delAACAT	ENST00000535915.5:p.Ter820CysfsTer69
	ENST00000545707.5:c.2049_*4delAACAT	ENST00000545707.5:p.Ter683CysfsTer69
	ENST00000557933.5:c.2645_2649delAACAT	ENST00000557933.5:p.Glu882AlafsTer13
	ENST00000558013.5:c.2577_*4delAACAT	ENST00000558013.5:p.Ter859CysfsTer69
	ENST00000558518.6:c.2583_*4delAACAT	ENST00000558518.6:p.Ter861CysfsTer69
	ENST00000560467.2:c.2463_*4delAACAT	ENST00000560467.2:p.Ter821CysfsTer69

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

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
Uncertain significance	2022-12-10	criteria provided, single submitter	LDLR-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000527.5(LDLR):c.2583_*4del (p.Ter861CysextTer?) AND LDLR-related disorder	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: -
Genome: hg38
Position: chr19:11,131,316-11,131,320
Variant Type: snv
Reference Allele: AACAT
Alternative Allele: -

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