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Variant : CV245650 (NM_000527.4(LDLR):c.598T>A (p.Phe200Ile)) Homo sapiens

Symbol: CV245650
Name: NM_000527.4(LDLR):c.598T>A (p.Phe200Ile)
Condition: Familial hypercholesterolemia [RCV000237374]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 12/16/2016
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing|literature only
HGVS Name(s): LRG_274t1:c.598T>A
NM_000527.4:c.598T>A
LRG_274:g.21124T>A
NG_009060.1:g.21124T>A
NC_000019.10:g.11105504T>A
NC_000019.9:g.11216180T>A
c.598T>A
LRG_274p1:p.Phe200Ile
NP_000518.1:p.Phe200Ile
NM_001195800.2:c.314-1888T>A
NM_001195799.2:c.475T>A
NM_000527.4:c.598T>A
NM_001195798.2:c.598T>A
NP_001182728.1:p.Phe159Ile
NP_001182727.1:p.Phe200Ile
NM_001195803.2:c.314-1061T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,105,504 - 11,105,504CLINVAR
GRCh371911,216,180 - 11,216,180CLINVAR
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: 11524378
Created: 2016-08-09
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.