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Variant : CV469072 (NC_000019.9:g.(?_11210879)_(11222335_?)dup) Homo sapiens

Symbol: CV469072
Name: NC_000019.9:g.(?_11210879)_(11222335_?)dup
Condition: Familial hypercholesterolemia [RCV000558202]
Clinical Significance: pathogenic
Last Evaluated: 06/05/2018
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.9:g.(?_11210879)_(11222335_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,100,203 - 11,111,659CLINVAR
GRCh371911,210,879 - 11,222,335CLINVAR
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



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13493460
Created: 2018-01-09
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.