NM_000527.4(LDLR):c.2141_2311del171 (p.Glu714_Gln770del) AND Hypercholesterolemia, familial, 1

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000508892.1

Allele description [Variation Report for NM_000527.4(LDLR):c.2141_2311del171 (p.Glu714_Gln770del)]

NM_000527.4(LDLR):c.2141_2311del171 (p.Glu714_Gln770del)

Gene:

LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_000527.4(LDLR):c.2141_2311del171 (p.Glu714_Gln770del)

HGVS:

NC_000019.10:g.11123174_11123344del
NG_009060.1:g.38794_38964del
LRG_274t1:c.2141_2311del
LRG_274:g.38794_38964del
NC_000019.9:g.11233850_11234020del

Links:

dbSNP: rs1555808008

NCBI 1000 Genomes Browser:

rs1555808008

Condition(s)

Name:: Hypercholesterolemia, familial, 1
Synonyms:: LDL RECEPTOR DISORDER; Hyperlipoproteinemia Type IIa; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007750; MedGen: C0745103; Orphanet: 391665; OMIM: 143890

Recent activity

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cell division cycle protein 16 homolog isoform 1 [Homo sapiens]
cell division cycle protein 16 homolog isoform 1 [Homo sapiens]
gi|118402580|ref|NP_003894.3|

Protein
CEBPA CCAAT enhancer binding protein alpha [Homo sapiens]
CEBPA CCAAT enhancer binding protein alpha [Homo sapiens]
Gene ID:1050

Gene
Gene Links for GEO Profiles (Select 121723925) (1)
Gene
Structure Links for Protein (Select 1370515854) (3)
Structure
SLC7A10 solute carrier family 7 member 10 [Homo sapiens]
SLC7A10 solute carrier family 7 member 10 [Homo sapiens]
Gene ID:56301

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000606611	Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	no assertion criteria provided	Pathogenic	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000606611

Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum

no assertion criteria provided

Pathogenic

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum, SCV000606611.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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