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Variant : CV172183 (NM_000527.4(LDLR):c.1359-1G>A) Homo sapiens

Symbol: CV172183
Name: NM_000527.4(LDLR):c.1359-1G>A
Condition: Familial hypercholesterolemia - homozygous [RCV000844728]|Familial hypercholesterolemia [RCV000172962]|Familial hypercholesterolemias [RCV000775066]|Hypercholesterolaemia [RCV000149884]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
Last Evaluated: 01/16/2018
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: LDLR   MIR6886  
Variant Type: single nucleotide variant (SO:0001619)
Source: CLINVAR
Molecular Consequence: non-coding transcript variant|splice acceptor variant
Evidence: clinical testing|research
HGVS Name(s): LRG_274t1:c.1359-1G>A
NM_000527.4:c.1359-1G>A
LRG_274:g.29154G>A
NG_009060.1:g.29154G>A
NC_000019.10:g.11113534G>A
NC_000019.9:g.11224210G>A
c.1359-1G>A
NM_001195799.2:c.1236-1G>A
NM_001195798.2:c.1359-1G>A
NM_001195800.2:c.855-1G>A
NC_000019.9:g.11224210G>A
NR_106946.1:n.61G>A
NM_001195803.2:c.978-1G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,113,534 - 11,113,534CLINVAR
GRCh371911,224,210 - 11,224,210CLINVAR
Cytogenetic Map1919p13.2CLINVAR
Trait Synonyms: Fredrickson type IIa hyperlipoproteinemia; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; HYPERCHOLESTEROLEMIA, FAMILIAL, 1; HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF; HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL; Hyperlipoproteinemia Type II; Hyperlipoproteinemia Type IIa; LDL RECEPTOR DISORDER
Prevalence: 1-9 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9686745
Created: 2015-02-10
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.