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Variant : CV434345 (NM_000527.4(LDLR):c.2413G>C (p.Gly805Arg)) Homo sapiens

Symbol: CV434345
Name: NM_000527.4(LDLR):c.2413G>C (p.Gly805Arg)
Condition: Familial hypercholesterolemia [RCV000508758]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): LRG_274t1:c.2413G>C
NM_000527.4:c.2413G>C
LRG_274:g.45156G>C
NG_009060.1:g.45156G>C
NC_000019.10:g.11129536G>C
NC_000019.9:g.11240212G>C
LRG_274p1:p.Gly805Arg
NP_000518.1:p.Gly805Arg
NM_001195803.2:c.1879G>C
NM_001195800.2:c.1909G>C
NM_001195799.2:c.2290G>C
NM_000527.4:c.2413G>C
NM_001195798.2:c.2413G>C
NP_001182732.1:p.Gly627Arg
NP_001182729.1:p.Gly637Arg
NP_001182728.1:p.Gly764Arg
NP_001182727.1:p.Gly805Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,129,536 - 11,129,536CLINVAR
GRCh371911,240,212 - 11,240,212CLINVAR
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



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13437391
Created: 2017-10-10
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.