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Variant : CV227096 (NM_000527.4(LDLR):c.1004G>A (p.Gly335Asp)) Homo sapiens

Symbol: CV227096
Name: NM_000527.4(LDLR):c.1004G>A (p.Gly335Asp)
Condition: Familial hypercholesterolemia [RCV000210827]
Clinical Significance: likely pathogenic
Last Evaluated: 04/03/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): LRG_274t1:c.1004G>A
LRG_274:g.26335G>A
NG_009060.1:g.26335G>A
NC_000019.10:g.11110715G>A
NC_000019.9:g.11221391G>A
LRG_274p1:p.Gly335Asp
NP_000518.1:p.Gly335Asp
NM_001195798.2:c.1004G>A
NM_001195800.2:c.500G>A
NM_001195803.2:c.623G>A
NM_001195799.2:c.881G>A
NP_001182728.1:p.Gly294Asp
NP_001182727.1:p.Gly335Asp
NP_001182729.1:p.Gly167Asp
NP_001182732.1:p.Gly208Asp
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,110,715 - 11,110,715CLINVAR
GRCh371911,221,391 - 11,221,391CLINVAR
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: 11075179
Created: 2016-05-10
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.