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Variant : CV246194 (NM_000527.4(LDLR):c.1516G>A (p.Val506Met)) Homo sapiens

Symbol: CV246194
Name: NM_000527.4(LDLR):c.1516G>A (p.Val506Met)
Condition: Familial hypercholesterolemia [RCV000237901]|Familial hypercholesterolemias [RCV000775071]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 10/02/2018
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter
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.1516G>A
NM_000527.4:c.1516G>A
LRG_274:g.29312G>A
NG_009060.1:g.29312G>A
NC_000019.10:g.11113692G>A
NC_000019.9:g.11224368G>A
c.1516G>A
LRG_274p1:p.Val506Met
NP_000518.1:p.Val506Met
NM_000527.4:c.1516G>A
NM_001195798.2:c.1516G>A
NP_001182729.1:p.Val338Met
NP_001182732.1:p.Val379Met
NP_001182728.1:p.Val465Met
NP_001182727.1:p.Val506Met
NM_001195800.2:c.1012G>A
NM_001195803.2:c.1135G>A
NM_001195799.2:c.1393G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,113,692 - 11,113,692CLINVAR
GRCh371911,224,368 - 11,224,368CLINVAR
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: 11524890
Created: 2016-08-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.