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Variant : CV245521 (NM_001195800.2(LDLR):c.314-2117_314-2093del) Homo sapiens

Symbol: CV245521
Name: NM_001195800.2(LDLR):c.314-2117_314-2093del
Condition: Familial hypercholesterolemia [RCV000237285]
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): NM_001195799.2:c.246_270del
NM_001195803.2:c.314-1290_314-1266del
NM_001195800.2:c.314-2117_314-2093del
NM_001195798.2:c.369_393del
NC_000019.10:g.11105275_11105299del
LRG_274p1:p.Arg124fs
NP_000518.1:p.Arg124fs
c.369_393del
LRG_274:g.20895_20919del
LRG_274t1:c.369_393del
NG_009060.1:g.20895_20919del
NP_001182727.1:p.Arg124fs
NP_001182728.1:p.Arg83fs
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,105,275 - 11,105,299CLINVAR
GRCh371911,215,951 - 11,215,975CLINVAR
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: 11524292
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.