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Variant : CV246484 (NM_001195803.2(LDLR):c.1606+194T>C) Homo sapiens

Symbol: CV246484
Name: NM_001195803.2(LDLR):c.1606+194T>C
Condition: Familial hypercholesterolemia [RCV000237612]
Clinical Significance: likely pathogenic
Last Evaluated: 03/25/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: literature only
HGVS Name(s): LRG_274t1:c.2045T>C
NM_000527.4:c.2045T>C
LRG_274:g.36047T>C
NG_009060.1:g.36047T>C
NC_000019.10:g.11120427T>C
NC_000019.9:g.11231103T>C
c.2045T>C
LRG_274p1:p.Leu682Pro
NP_000518.1:p.Leu682Pro
P01130:p.Leu682Pro
NM_001195800.2:c.1541T>C
NM_001195803.2:c.1606+194T>C
NM_001195799.2:c.1922T>C
NM_001195798.2:c.2045T>C
NP_001182729.1:p.Leu514Pro
NP_001182728.1:p.Leu641Pro
NP_001182727.1:p.Leu682Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,120,427 - 11,120,427CLINVAR
GRCh371911,231,103 - 11,231,103CLINVAR
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: 11524610
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.