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Variant : CV403140 (NM_000527.4(LDLR):c.2388C>T (p.Ile796=)) Homo sapiens

Symbol: CV403140
Name: NM_000527.4(LDLR):c.2388C>T (p.Ile796=)
Condition: Familial hypercholesterolemia [RCV000462919]|not specified [RCV000780381]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 08/20/2018
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_274t1:c.2388C>T
NM_000527.4:c.2388C>T
LRG_274:g.43704C>T
NG_009060.1:g.43704C>T
NC_000019.10:g.11128084C>T
NC_000019.9:g.11238760C>T
LRG_274p1:p.Ile796=
NP_000518.1:p.Ile796=
NM_001195803.2:c.1854C>T
NM_001195800.2:c.1884C>T
NM_001195799.2:c.2265C>T
NM_000527.4:c.2388C>T
NM_001195798.2:c.2388C>T
NP_001182732.1:p.Ile618=
NP_001182729.1:p.Ile628=
NP_001182728.1:p.Ile755=
NP_001182727.1:p.Ile796=
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,128,084 - 11,128,084CLINVAR
GRCh371911,238,760 - 11,238,760CLINVAR
Cytogenetic Map1919p13.2CLINVAR
Trait Synonyms: AllHighlyPenetrant; 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: 12884141
Created: 2017-05-09
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.