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Variant : CV342642 (NM_000527.4(LDLR):c.*503C>T) Homo sapiens

Symbol: CV342642
Name: NM_000527.4(LDLR):c.*503C>T
Condition: Familial hypercholesterolemia [RCV000260701]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): LRG_274t1:c.*503C>T
NM_000527.4:c.*503C>T
LRG_274:g.47439C>T
NG_009060.1:g.47439C>T
NC_000019.10:g.11131819C>T
NC_000019.9:g.11242495C>T
NM_001195798.2:c.*503C>T
NM_001195799.2:c.*503C>T
NM_001195800.2:c.*503C>T
NM_001195803.2:c.*503C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,131,819 - 11,131,819CLINVAR
GRCh371911,242,495 - 11,242,495CLINVAR
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

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11612604
Created: 2017-01-11
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.