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Variant : CV354082 (NM_001195800.2(LDLR):c.314-2116dup) Homo sapiens

Symbol: CV354082
Name: NM_001195800.2(LDLR):c.314-2116dup
Condition: Familial hypercholesterolemia [RCV000408817]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated:
Review Status: 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|in vivo
HGVS Name(s): NP_000518.1:p.R124Pfs*5
NP_001182727.1:p.Arg124fs
NM_000527.4:c.370dup
NM_001195798.2:c.370dup
LRG_274:g.20896dup
NG_009060.1:g.20896dup
NC_000019.10:g.11105276dup
LRG_274p1:p.Arg124fs
NP_001182728.1:p.Arg83fs
LRG_274t1:c.370dup
NM_001195799.2:c.247dup
NM_001195803.2:c.314-1289dup
NM_001195800.2:c.314-2116dup
NC_000019.9:g.11215952dup
NP_000518.1:p.R124Pfs*5
NP_000518.1:p.Arg124fs
NM_000527.4:c.370_371insC
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,105,276 - 11,105,276CLINVAR
GRCh371911,215,952 - 11,215,952CLINVAR
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: 11634564
Created: 2017-01-11
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.