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Variant : CV246733 (c.(2140+1_2141-1)_(*2514_?)del) 

Symbol: CV246733
Name: c.(2140+1_2141-1)_(*2514_?)del
Condition: Familial hypercholesterolemia [RCV000238194]
Clinical Significance: pathogenic
Last Evaluated: 03/25/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: literature only
HGVS Name(s): c.(2140+1_2141-1)_(*2514_?)del
Position
AssemblyChrPosition (strand)Source
GRCh371911,233,849 - 11,244,506CLINVAR
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 - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11525175
Created: 2016-08-09
Species:
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.