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Variant : CV434337 (NM_000527.4(LDLR):c.2259dup (p.Gly754fs)) Homo sapiens

Symbol: CV434337
Name: NM_000527.4(LDLR):c.2259dup (p.Gly754fs)
Condition: Familial hypercholesterolemia - homozygous [RCV000844751]|Familial hypercholesterolemia [RCV000508815]
Clinical Significance: pathogenic
Last Evaluated: 08/10/2017
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|research
HGVS Name(s): NP_000518.1:p.Gly754fs
NP_001182727.1:p.Gly754fs
LRG_274t1:c.2259dup
LRG_274:g.38912dup
NG_009060.1:g.38912dup
NC_000019.10:g.11123292dup
NC_000019.9:g.11233968dup
p.Gly754TrpfsX28
NM_000527.4:c.2259dup
NM_001195803.2:c.1725dup
NM_001195800.2:c.1755dup
NM_001195799.2:c.2136dup
NM_001195798.2:c.2259dup
LRG_274p1:p.Gly754fs
NP_001182732.1:p.Gly576fs
NP_001182729.1:p.Gly586fs
NP_001182728.1:p.Gly713fs
NC_000019.9:g.11233968_11233969insT
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,123,292 - 11,123,292CLINVAR
GRCh371911,233,968 - 11,233,968CLINVAR
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



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13437442
Created: 2017-10-10
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.