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Variant : CV434828 (NM_001195800.2(LDLR):c.314-1805_314-1804insTCAGGGAAACCCGACTGC) 

Symbol: CV434828
Name: NM_001195800.2(LDLR):c.314-1805_314-1804insTCAGGGAAACCCGACTGC
Condition: Familial hypercholesterolemia [RCV000509513]
Clinical Significance: likely pathogenic
Last Evaluated: 03/01/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: insertion (SO:0001821)
Source: CLINVAR
Molecular Consequence: inframe_insertion|intron variant
Evidence: research
HGVS Name(s): NM_001195798.2:c.681_682insTCAGGGAAACCCGACTGC
LRG_274p1:p.Glu228_Glu229insSerGlyLysProAspCys
NP_001182728.1:p.Glu187_Glu188insSerGlyLysProAspCys
NP_001182727.1:p.Glu228_Glu229insSerGlyLysProAspCys
LRG_274t1:c.681_682insTCAGGGAAACCCGACTGC
NM_000527.4:c.681_682insTCAGGGAAACCCGACTGC
LRG_274:g.21207_21208insTCAGGGAAACCCGACTGC
NG_009060.1:g.21207_21208insTCAGGGAAACCCGACTGC
NC_000019.10:g.11105587_11105588insTCAGGGAAACCCGACTGC
NC_000019.9:g.11216263_11216264insTCAGGGAAACCCGACTGC
NP_000518.1:p.Glu228_Glu229insSerGlyLysProAspCys
NM_001195800.2:c.314-1805_314-1804insTCAGGGAAACCCGACTGC
NM_001195803.2:c.314-978_314-977insTCAGGGAAACCCGACTGC
NM_001195799.2:c.558_559insTCAGGGAAACCCGACTGC
NM_000527.4:c.681_682insTCAGGGAAACCCGACTGC
Position
AssemblyChrPosition (strand)Source
GRCh381911,105,587 - 11,105,588CLINVAR
GRCh371911,216,263 - 11,216,264CLINVAR
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



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13442829
Created: 2017-11-07
Species:
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.