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Variant : CV246446 (NM_000527.4(LDLR):c.1988-52_2006del) Homo sapiens

Symbol: CV246446
Name: NM_000527.4(LDLR):c.1988-52_2006del
Condition: Familial hypercholesterolemia [RCV000237567]
Clinical Significance: pathogenic
Last Evaluated: 03/25/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: deletion (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: literature only
HGVS Name(s): LRG_274t1:c.1988-52_2006del
NM_000527.4:c.1988-52_2006del
c.1988-52_2006del
LRG_274:g.35938_36008del
NM_001195800.2:c.1484-52_1502del
NM_001195803.2:c.1606+85_1606+155del
NM_001195799.2:c.1865-52_1883del
NM_001195798.2:c.1988-52_2006del
NG_009060.1:g.35938_36008del
NC_000019.10:g.11120318_11120388del
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,120,318 - 11,120,388CLINVAR
GRCh371911,230,994 - 11,231,064CLINVAR
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: 11524567
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.