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Variant : CV228201 (NM_000527.4(LDLR):c.2271del (p.Leu759fs)) Homo sapiens

Symbol: CV228201
Name: NM_000527.4(LDLR):c.2271del (p.Leu759fs)
Condition: Familial hypercholesterolemia [RCV000211650]|not provided [RCV000493493]
Clinical Significance: pathogenic
Last Evaluated: 05/11/2017
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: LDLR  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): LRG_274:g.38924del
c.2271delT
NM_001195803.2:c.1737del
NM_001195800.2:c.1767del
NC_000019.10:g.11123304del
NC_000019.9:g.11233980del
LRG_274p1:p.Leu759fs
NP_001182727.1:p.Leu759fs
LRG_274t1:c.2271del
NM_001195799.2:c.2148del
NM_000527.4:c.2271del
NM_001195798.2:c.2271del
NP_001182732.1:p.Leu581fs
NP_001182729.1:p.Leu591fs
NP_001182728.1:p.Leu718fs
NP_000518.1:p.Leu759fs
NM_000527.4:c.2271delT
NC_000019.9:g.11233980delT
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,123,304 - 11,123,304CLINVAR
GRCh371911,233,980 - 11,233,980CLINVAR
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 - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11088016
Created: 2016-06-07
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.