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Variant : CV246261 (NM_000527.4(LDLR):c.1655del (p.Ile552fs)) Homo sapiens

Symbol: CV246261
Name: NM_000527.4(LDLR):c.1655del (p.Ile552fs)
Condition: Familial hypercholesterolemia [RCV000237966]
Clinical Significance: pathogenic
Last Evaluated: 03/25/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only
HGVS Name(s): LRG_274t1:c.1655del
LRG_274:g.31782del
c.1655delT
NM_001195800.2:c.1151del
NM_001195803.2:c.1274del
NM_001195799.2:c.1532del
NM_000527.4:c.1655del
NP_001182729.1:p.Ile384fs
NP_001182732.1:p.Ile425fs
NP_000518.1:p.Ile552fs
NP_001182727.1:p.Ile552fs
NM_001195798.2:c.1655del
NG_009060.1:g.31782del
NC_000019.10:g.11116162del
NC_000019.9:g.11226838del
LRG_274p1:p.Ile552fs
NP_001182728.1:p.Ile511fs
NC_000019.9:g.11226838delT
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,116,162 - 11,116,162CLINVAR
GRCh371911,226,838 - 11,226,838CLINVAR
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: 11524952
Created: 2016-08-09
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.