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Variant : CV434808 (NM_000527.4(LDLR):c.1061-?_1586+?del) Homo sapiens

Symbol: CV434808
Name: NM_000527.4(LDLR):c.1061-?_1586+?del
Condition: Familial hypercholesterolemia [RCV000509354]
Clinical Significance: uncertain significance
Last Evaluated: 03/01/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: research
HGVS Name(s): LRG_274t1:c.1061-?_1586+?del
NM_000527.4:c.1061-?_1586+?del
Position
Human AssemblyChrPosition (strand)Source
GRCh371911,222,190 - 11,224,438CLINVAR
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: 13442594
Created: 2017-11-07
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.