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Variant : CV390642 (NM_000527.4(LDLR):c.(1845+1_1846-1)_(2140+1_2141-1)del) Homo sapiens

Symbol: CV390642
Name: NM_000527.4(LDLR):c.(1845+1_1846-1)_(2140+1_2141-1)del
Condition: Familial hypercholesterolemia [RCV000454525]
Clinical Significance: pathogenic
Last Evaluated: 11/05/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): LRG_274t1:c.(1845+1_1846-1)_(2140+1_2141-1)del
NM_000527.4:c.(1845+1_1846-1)_(2140+1_2141-1)del
Position No map positions available.
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 - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12880451
Created: 2017-05-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.