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Variant : CV18728 (NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr)) Homo sapiens

Symbol: CV18728
Name: NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr)
Condition: Familial hypercholesterolemia [RCV000030131]|Familial hypercholesterolemias [RCV000775084]|not provided [RCV000313287]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
Last Evaluated: 11/27/2018
Review Status: classified by multiple submitters|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron|intron variant|missense|missense variant
Evidence: literature only|clinical testing
HGVS Name(s): LRG_274t1:c.2000G>A
NM_000527.4:c.2000G>A
LRG_274:g.36002G>A
NG_009060.1:g.36002G>A
NC_000019.10:g.11120382G>A
NC_000019.9:g.11231058G>A
LRG_274p1:p.Cys667Tyr
NP_000518.1:p.Cys667Tyr
c.2000G>A
P01130:p.Cys667Tyr
NP_000518.1:p.C667Y
NM_001195800.2:c.1496G>A
NM_001195803.2:c.1606+149G>A
NM_001195799.2:c.1877G>A
NM_000527.4:c.2000G>A
NM_001195798.2:c.2000G>A
NP_000518.1:p.C667Y
NP_001182729.1:p.Cys499Tyr
NP_001182728.1:p.Cys626Tyr
NP_001182727.1:p.Cys667Tyr
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,120,382 - 11,120,382CLINVAR
GRCh371911,231,058 - 11,231,058CLINVAR
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: 8569600
Created: 2014-05-13
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.