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Variant : CV228103 (NM_000527.4(LDLR):c.314-?_1060+?del) Homo sapiens

Symbol: CV228103
Name: NM_000527.4(LDLR):c.314-?_1060+?del
Condition: Familial hypercholesterolemia [RCV000211663]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 08/08/2016
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: LDLR  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): LRG_274t1:c.314-?_1060+?del
NM_000527.4:c.314-?_1060+?del
Position
Human AssemblyChrPosition (strand)Source
GRCh371911,215,895 - 11,221,447CLINVAR
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 - curated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11087801
Created: 2016-06-07
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.