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Variant : CV245571 (NM_001195800.2(LDLR):c.314-2035_314-2033del) Homo sapiens

Symbol: CV245571
Name: NM_001195800.2(LDLR):c.314-2035_314-2033del
Condition: Familial hypercholesterolemia [RCV000237203]
Clinical Significance: likely pathogenic
Last Evaluated: 03/25/2016
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: LDLR  
Variant Type: deletion (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion|inframe_variant|intron variant
Evidence: literature only|research
HGVS Name(s): c.451_453del
LRG_274p1:p.Ala151del
NP_000518.1:p.Ala151del
LRG_274t1:c.451_453del
NG_009060.1:g.20977_20979del
LRG_274:g.20977_20979del
NM_001195803.2:c.314-1208_314-1206del
NM_001195800.2:c.314-2035_314-2033del
NM_001195799.2:c.328_330del
NM_001195798.2:c.451_453del
NC_000019.10:g.11105357_11105359del
NP_001182728.1:p.Ala110del
NP_001182727.1:p.Ala151del
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,105,357 - 11,105,359CLINVAR
GRCh371911,216,033 - 11,216,035CLINVAR
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: 11524217
Created: 2016-08-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.