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Variant : CV246159 (NM_000527.4(LDLR):c.1444G>T (p.Asp482Tyr)) Homo sapiens

Symbol: CV246159
Name: NM_000527.4(LDLR):c.1444G>T (p.Asp482Tyr)
Condition: Familial hypercholesterolemia [RCV000237378]
Clinical Significance: likely pathogenic
Last Evaluated: 03/25/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): LRG_274t1:c.1444G>T
NM_000527.4:c.1444G>T
LRG_274:g.29240G>T
NG_009060.1:g.29240G>T
NC_000019.10:g.11113620G>T
NC_000019.9:g.11224296G>T
c.1444G>T
LRG_274p1:p.Asp482Tyr
NP_000518.1:p.Asp482Tyr
NM_001195803.2:c.1063G>T
NM_001195799.2:c.1321G>T
NM_001195798.2:c.1444G>T
NM_001195800.2:c.940G>T
NP_001182729.1:p.Asp314Tyr
NP_001182732.1:p.Asp355Tyr
NP_001182728.1:p.Asp441Tyr
NP_001182727.1:p.Asp482Tyr
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,113,620 - 11,113,620CLINVAR
GRCh371911,224,296 - 11,224,296CLINVAR
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: 11524382
Created: 2016-08-09
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.