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Variant : CV171221 (NM_000527.4(LDLR):c.2252G>A (p.Arg751Gln)) Homo sapiens

Symbol: CV171221
Name: NM_000527.4(LDLR):c.2252G>A (p.Arg751Gln)
Condition: Familial hypercholesterolemia [RCV000210245]|Familial hypercholesterolemias [RCV000815637]|Hypercholesterolaemia [RCV000148593]
Clinical Significance: conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 09/11/2018
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, single submitter|no assertion criteria provided
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|literature only|research
HGVS Name(s): LRG_274t1:c.2252G>A
LRG_274:g.38905G>A
NG_009060.1:g.38905G>A
NC_000019.10:g.11123285G>A
NC_000019.9:g.11233961G>A
LRG_274p1:p.Arg751Gln
NP_000518.1:p.Arg751Gln
c.2252G>A
NM_000527.4:c.2252G>A
NM_001195803.2:c.1718G>A
NM_001195799.2:c.2129G>A
NM_001195798.2:c.2252G>A
NP_001182732.1:p.Arg573Gln
NP_001182729.1:p.Arg583Gln
NP_001182728.1:p.Arg710Gln
NP_001182727.1:p.Arg751Gln
NM_001195800.2:c.1748G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,123,285 - 11,123,285CLINVAR
GRCh371911,233,961 - 11,233,961CLINVAR
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: 9686663
Created: 2015-02-10
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.