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Variant : CV18744 (NM_000527.4(LDLR):c.2447_2450dupAGAA (p.Asn817Lysfs)) Homo sapiens

Symbol: CV18744
Name: NM_000527.4(LDLR):c.2447_2450dupAGAA (p.Asn817Lysfs)
Condition: Familial hypercholesterolemia [RCV000003895]
Clinical Significance: pathogenic|other
Last Evaluated: 03/30/2017
Review Status: classified by single submitter|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|literature only
HGVS Name(s): p.Asn817Lysfs*9
NM_001195803.2:c.1913_1916dup
NM_001195800.2:c.1943_1946dup
NM_000527.4:c.2447_2450dup
NM_001195798.2:c.2447_2450dup
LRG_274p1:p.Asn817fs
NP_001182732.1:p.Asn639fs
c.2447_2450dup
LRG_274t1:c.2447_2450dup
LRG_274:g.45190_45193dup
NG_009060.1:g.45190_45193dup
NM_000527.4:c.2447_2450dup
NM_001195799.2:c.2324_2327dup
NC_000019.10:g.11129570_11129573dup
NP_001182729.1:p.Asn649fs
NP_001182728.1:p.Asn776fs
NP_000518.1:p.Asn817fs
NP_001182727.1:p.Asn817fs
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,129,570 - 11,129,573CLINVAR
GRCh371911,240,246 - 11,240,249CLINVAR
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: 8557595
Created: 2014-05-13
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.