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Variant : CV181229 (NM_000527.4(LDLR):c.542C>G (p.Pro181Arg)) Homo sapiens

Symbol: CV181229
Name: NM_000527.4(LDLR):c.542C>G (p.Pro181Arg)
Condition: Familial hypercholesterolemia [RCV000237262]|not provided [RCV000161959]
Clinical Significance: likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
Last Evaluated: 04/25/2018
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter|no assertion provided|not classified by submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant|missense variant
Evidence: clinical testing|in vitro|literature only
HGVS Name(s): LRG_274t1:c.542C>G
LRG_274:g.21068C>G
NG_009060.1:g.21068C>G
NC_000019.10:g.11105448C>G
NC_000019.9:g.11216124C>G
LRG_274p1:p.Pro181Arg
NP_000518.1:p.Pro181Arg
NM_001195799.2:c.419C>G
NM_001195798.2:c.542C>G
c.542C>G
NM_000527.4:c.542C>G
NM_001195803.2:c.314-1117C>G
NP_001182728.1:p.Pro140Arg
NM_001195800.2:c.314-1944C>G
NP_001182727.1:p.Pro181Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,105,448 - 11,105,448CLINVAR
GRCh371911,216,124 - 11,216,124CLINVAR
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: 9832170
Created: 2015-03-10
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.