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Variant : CV572864 (NM_000527.4(LDLR):c.1209C>A (p.Phe403Leu)) Homo sapiens

Symbol: CV572864
Name: NM_000527.4(LDLR):c.1209C>A (p.Phe403Leu)
Condition: Familial hypercholesterolemia [RCV000685044]
Clinical Significance: uncertain significance
Last Evaluated: 06/02/2018
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_274p1:p.Phe403Leu
NM_001195799.2:c.1086C>A
LRG_274:g.28920C>A
NG_009060.1:g.28920C>A
LRG_274t1:c.1209C>A
NC_000019.10:g.11113300C>A
NC_000019.9:g.11223976C>A
NP_000518.1:p.Phe403Leu
NP_001182732.1:p.Phe276Leu
NP_001182728.1:p.Phe362Leu
NP_001182727.1:p.Phe403Leu
NP_001182729.1:p.Phe235Leu
NM_001195798.2:c.1209C>A
NM_001195800.2:c.705C>A
NM_001195803.2:c.828C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,113,300 - 11,113,300CLINVAR
GRCh371911,223,976 - 11,223,976CLINVAR
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
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13803833
Created: 2018-11-06
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.