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Variant : CV246584 (NM_000527.4(LDLR):c.2385del (p.Ile796fs)) Homo sapiens

Symbol: CV246584
Name: NM_000527.4(LDLR):c.2385del (p.Ile796fs)
Condition: Familial hypercholesterolemia [RCV000238058]
Clinical Significance: pathogenic
Last Evaluated: 03/25/2016
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: LDLR  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only|research
HGVS Name(s): NG_009060.1:g.43701del
c.2385delC
LRG_274:g.43701del
NC_000019.10:g.11128081del
NC_000019.9:g.11238757del
LRG_274p1:p.Ile796fs
NP_001182732.1:p.Ile618fs
LRG_274t1:c.2385del
NM_001195803.2:c.1851del
NM_001195800.2:c.1881del
NM_001195799.2:c.2262del
NM_001195798.2:c.2385del
NP_001182729.1:p.Ile628fs
NP_001182728.1:p.Ile755fs
NP_000518.1:p.Ile796fs
NP_001182727.1:p.Ile796fs
NC_000019.9:g.11238757delC
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,128,081 - 11,128,081CLINVAR
GRCh371911,238,757 - 11,238,757CLINVAR
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: 11525041
Created: 2016-08-09
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.