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Variant : CV181233 (NM_000527.4(LDLR):c.662A>G (p.Asp221Gly)) Homo sapiens

Symbol: CV181233
Name: NM_000527.4(LDLR):c.662A>G (p.Asp221Gly)
Condition: Familial hypercholesterolemia - homozygous [RCV000844743]|Familial hypercholesterolemia [RCV000211655]|Familial hypercholesterolemias [RCV000771313]|not provided [RCV000161962]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
Last Evaluated: 02/01/2019
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided|no assertion provided|not classified by submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001536)
Source: CLINVAR
Molecular Consequence: intron variant|missense variant
Evidence: clinical testing|in vitro
HGVS Name(s): LRG_274t1:c.662A>G
NM_000527.4:c.662A>G
LRG_274:g.21188A>G
NG_009060.1:g.21188A>G
NC_000019.10:g.11105568A>G
NC_000019.9:g.11216244A>G
LRG_274p1:p.Asp221Gly
NP_000518.1:p.Asp221Gly
c.662A>G
P01130:p.Asp221Gly
NP_000518.1:p.D221G
NM_001195800.2:c.314-1824A>G
NM_001195799.2:c.539A>G
NM_001195798.2:c.662A>G
NM_001195803.2:c.314-997A>G
NM_000527.4:c.662A>G
NP_000518.1:p.D221G
NP_001182728.1:p.Asp180Gly
NP_001182727.1:p.Asp221Gly
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,105,568 - 11,105,568CLINVAR
GRCh371911,216,244 - 11,216,244CLINVAR
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: 9832173
Created: 2015-03-10
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.