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Variant : CV570268 (NC_000019.9:g.(?_11238664)_(11238781_?)del) Homo sapiens

Symbol: CV570268
Name: NC_000019.9:g.(?_11238664)_(11238781_?)del
Condition: Familial hypercholesterolemia [RCV000708177]
Clinical Significance: pathogenic
Last Evaluated: 01/12/2018
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.9:g.(?_11238664)_(11238781_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,127,988 - 11,128,105CLINVAR
GRCh371911,238,664 - 11,238,781CLINVAR
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: 13819222
Created: 2018-11-06
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.