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Variant : CV514373 (NM_000527.4(LDLR):c.68-?_1586+?del) Homo sapiens

Symbol: CV514373
Name: NM_000527.4(LDLR):c.68-?_1586+?del
Condition: Familial hypercholesterolemia [RCV000627175]
Clinical Significance: pathogenic
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): NM_000527.4:c.68-?_1586+?del
LRG_274t1:c.68-?_1586+?del
Position
Human AssemblyChrPosition (strand)Source
GRCh371911,210,898 - 11,224,439CLINVAR
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: 13610884
Created: 2018-06-12
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.