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Variant : CV243268 (NM_000527.4(LDLR):c.337G>A (p.Glu113Lys)) Homo sapiens

Symbol: CV243268
Name: NM_000527.4(LDLR):c.337G>A (p.Glu113Lys)
Condition: Familial hypercholesterolemia [RCV000232879]|Familial hypercholesterolemias [RCV000791453]
Clinical Significance: likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 12/07/2018
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing|literature only|research
HGVS Name(s): c.337G>A
LRG_274t1:c.337G>A
LRG_274:g.20863G>A
NG_009060.1:g.20863G>A
NC_000019.10:g.11105243G>A
NC_000019.9:g.11215919G>A
LRG_274p1:p.Glu113Lys
NP_000518.1:p.Glu113Lys
NM_000527.4:c.337G>A
NM_001195799.2:c.214G>A
NM_001195803.2:c.314-1322G>A
NM_001195800.2:c.314-2149G>A
NM_001195798.2:c.337G>A
NP_001182727.1:p.Glu113Lys
NP_001182728.1:p.Glu72Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,105,243 - 11,105,243CLINVAR
GRCh371911,215,919 - 11,215,919CLINVAR
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: 11350009
Created: 2016-07-12
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.