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Variant : CV45116 (NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys)) Homo sapiens

Symbol: CV45116
Name: NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys)
Condition: Familial hypercholesterolemia - homozygous [RCV000844747]|Familial hypercholesterolemia [RCV000030125]|Hypercholesterolaemia [RCV000148564]
Clinical Significance: pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 01/23/2018
Review Status: classified by single submitter|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:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant|2kb upstream variant
Evidence: clinical testing|literature only|research
HGVS Name(s): LRG_274t1:c.1222G>A
NM_000527.4:c.1222G>A
LRG_274:g.28933G>A
NG_009060.1:g.28933G>A
NC_000019.10:g.11113313G>A
NC_000019.9:g.11223989G>A
LRG_274p1:p.Glu408Lys
NP_000518.1:p.Glu408Lys
c.1222G>A
P01130:p.Glu408Lys
NM_001195799.2:c.1099G>A
NM_000527.4:c.1222G>A
NM_001195798.2:c.1222G>A
NM_001195800.2:c.718G>A
NM_001195803.2:c.841G>A
NC_000019.9:g.11223989G>A
NP_001182729.1:p.Glu240Lys
NP_001182732.1:p.Glu281Lys
NP_001182728.1:p.Glu367Lys
NP_001182727.1:p.Glu408Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,113,313 - 11,113,313CLINVAR
GRCh371911,223,989 - 11,223,989CLINVAR
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: 8569594
Created: 2014-05-13
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.