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Variant : CV246674 (c.(190+1_191-1)_(940+1_941-1)dup) Homo sapiens

Symbol: CV246674
Name: c.(190+1_191-1)_(940+1_941-1)dup
Condition: Familial hypercholesterolemia [RCV000237229]
Clinical Significance: likely pathogenic
Last Evaluated: 03/25/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: literature only
HGVS Name(s): c.(190+1_191-1)_(940+1_941-1)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh371911,213,339 - 11,218,191CLINVAR
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: 11524240
Created: 2016-08-09
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.