Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV245827 (NM_000527.4(LDLR):c.869_871dup (p.Ile290dup)) Homo sapiens

Symbol: CV245827
Name: NM_000527.4(LDLR):c.869_871dup (p.Ile290dup)
Condition: Familial hypercholesterolemia [RCV000238004]
Clinical Significance: uncertain significance
Last Evaluated: 03/25/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: duplication (SO:0001821)
Source: CLINVAR
Molecular Consequence: inframe_insertion|inframe_variant
Evidence: literature only
HGVS Name(s): c.869_871dup
NM_001195800.2:c.365_367dup
NM_001195803.2:c.488_490dup
NM_001195799.2:c.746_748dup
NM_001195798.2:c.869_871dup
NC_000019.10:g.11107443_11107445dup
LRG_274p1:p.Ile290dup
NP_001182729.1:p.Ile122dup
NP_001182732.1:p.Ile163dup
LRG_274:g.23063_23065dup
LRG_274t1:c.869_871dup
NG_009060.1:g.23063_23065dup
NM_000527.4:c.869_871dup
NP_001182728.1:p.Ile249dup
NP_000518.1:p.Ile290dup
NP_001182727.1:p.Ile290dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,107,443 - 11,107,445CLINVAR
GRCh371911,218,119 - 11,218,121CLINVAR
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: 11524989
Created: 2016-08-09
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.