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Variant : CV245348 (NM_001195798.2(LDLR):c.47T>C (p.Leu16Pro)) Homo sapiens

Symbol: CV245348
Name: NM_001195798.2(LDLR):c.47T>C (p.Leu16Pro)
Condition: Familial hypercholesterolemia [RCV000237870]
Clinical Significance: likely pathogenic|conflicting interpretations of pathogenicity
Last Evaluated: 03/25/2016
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: LDLR   LDLR-AS1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only|research
HGVS Name(s): LRG_274t1:c.47T>C
NM_000527.4:c.47T>C
LRG_274:g.5215T>C
NG_009060.1:g.5215T>C
NC_000019.10:g.11089595T>C
NC_000019.9:g.11200271T>C
c.47T>C
LRG_274p1:p.Leu16Pro
NP_000518.1:p.Leu16Pro
NM_000527.4:c.47T>C
NM_001195798.2:c.47T>C
NM_001195799.2:c.47T>C
NM_001195800.2:c.47T>C
NM_001195803.2:c.47T>C
NP_001182727.1:p.Leu16Pro
NP_001182728.1:p.Leu16Pro
NP_001182729.1:p.Leu16Pro
NP_001182732.1:p.Leu16Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,089,595 - 11,089,595CLINVAR
GRCh371911,200,271 - 11,200,271CLINVAR
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: 11524860
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.