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Variant : CV228160 (NM_000527.4(LDLR):c.1118_1121dup (p.Tyr375fs)) Homo sapiens

Symbol: CV228160
Name: NM_000527.4(LDLR):c.1118_1121dup (p.Tyr375fs)
Condition: Familial hypercholesterolemia - homozygous [RCV000825618]|Familial hypercholesterolemia [RCV000211651]|Familial hypercholesterolemias [RCV000588024]
Clinical Significance: pathogenic
Last Evaluated: 02/13/2018
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: LDLR  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing|curation
HGVS Name(s): c.1118_1121dup
LRG_274:g.27191_27194dup
NG_009060.1:g.27191_27194dup
NC_000019.9:g.11222250_11222251insGTGG
LRG_274t1:c.1118_1121dup
NP_000518.1:p.Tyr375fs
NP_001182727.1:p.Tyr375fs
NM_000527.4:c.1118_1121dupGTGG
NM_001195798.2:c.1118_1121dup
NM_001195800.2:c.614_617dup
NC_000019.10:g.11111571_11111574dup
NM_000527.4:c.1118_1121dup
NM_001195803.2:c.737_740dup
NM_001195799.2:c.995_998dup
LRG_274p1:p.Tyr375fs
NP_001182729.1:p.Tyr207fs
NP_001182732.1:p.Tyr248fs
NP_001182728.1:p.Tyr334fs
NC_000019.9:g.11222247_11222250dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,111,571 - 11,111,574CLINVAR
GRCh371911,222,247 - 11,222,250CLINVAR
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: 11088017
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.