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Variant : CV228143 (NM_001195800.2(LDLR):c.314-1826del) Homo sapiens

Symbol: CV228143
Name: NM_001195800.2(LDLR):c.314-1826del
Condition: Familial hypercholesterolemia [RCV000211699]|Familial hypercholesterolemias [RCV000824495]
Clinical Significance: pathogenic
Last Evaluated: 01/07/2019
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: LDLR  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): c.660delC
NG_009060.1:g.21186del
NC_000019.10:g.11105566del
NC_000019.9:g.11216242del
LRG_274p1:p.Asp221fs
NP_001182728.1:p.Asp180fs
NP_001182727.1:p.Asp221fs
LRG_274t1:c.660del
LRG_274:g.21186del
NM_001195800.2:c.314-1826del
NM_001195803.2:c.314-999del
NM_001195799.2:c.537del
NM_001195798.2:c.660del
NC_000019.9:g.11216242delC
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,105,566 - 11,105,566CLINVAR
GRCh371911,216,242 - 11,216,242CLINVAR
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
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11088038
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.