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Variant : CV424346 (NM_000527.4(LDLR):c.2422C>G (p.Leu808Val)) Homo sapiens

Symbol: CV424346
Name: NM_000527.4(LDLR):c.2422C>G (p.Leu808Val)
Condition: Familial hypercholesterolemia [RCV000495882]
Clinical Significance: pathogenic
Last Evaluated: 03/30/2017
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001195803.2:c.1888C>G
LRG_274t1:c.2422C>G
LRG_274:g.45165C>G
NG_009060.1:g.45165C>G
NC_000019.10:g.11129545C>G
NC_000019.9:g.11240221C>G
LRG_274p1:p.Leu808Val
NP_000518.1:p.Leu808Val
NM_001195800.2:c.1918C>G
NM_001195799.2:c.2299C>G
NM_001195798.2:c.2422C>G
NP_001182732.1:p.Leu630Val
NP_001182729.1:p.Leu640Val
NP_001182728.1:p.Leu767Val
NP_001182727.1:p.Leu808Val
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,129,545 - 11,129,545CLINVAR
GRCh371911,240,221 - 11,240,221CLINVAR
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: 13208076
Created: 2017-08-08
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.