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Variant : CV246517 (NM_001195803.2(LDLR):c.1606+257_1606+260dup) Homo sapiens

Symbol: CV246517
Name: NM_001195803.2(LDLR):c.1606+257_1606+260dup
Condition: Familial hypercholesterolemia [RCV000237499]
Clinical Significance: pathogenic
Last Evaluated: 03/25/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only
HGVS Name(s): NC_000019.10:g.11120490_11120493dup
NP_000518.1:p.Arg706fs
c.2108_2111dup
NM_000527.4:c.2108_2111dup
LRG_274:g.36110_36113dup
NG_009060.1:g.36110_36113dup
LRG_274t1:c.2108_2111dup
NM_001195800.2:c.1604_1607dup
NM_001195803.2:c.1606+257_1606+260dup
NM_001195799.2:c.1985_1988dup
NM_001195798.2:c.2108_2111dup
LRG_274p1:p.Arg706fs
NP_001182729.1:p.Arg538fs
NP_001182728.1:p.Arg665fs
NP_001182727.1:p.Arg706fs
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,120,490 - 11,120,493CLINVAR
GRCh371911,231,166 - 11,231,169CLINVAR
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: 11524499
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.