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Variant : CV187195 (NM_000527.4(LDLR):c.828C>A (p.Cys276Ter)) Homo sapiens

Symbol: CV187195
Name: NM_000527.4(LDLR):c.828C>A (p.Cys276Ter)
Condition: Familial hypercholesterolemia [RCV000172961]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 11/05/2016
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing|literature only|research
HGVS Name(s): NM_001195800.2:c.324C>A
NM_001195803.2:c.447C>A
NM_001195799.2:c.705C>A
NM_001195798.2:c.828C>A
LRG_274t1:c.828C>A
LRG_274:g.23022C>A
NG_009060.1:g.23022C>A
NC_000019.10:g.11107402C>A
NC_000019.9:g.11218078C>A
LRG_274p1:p.Cys276Ter
NP_000518.1:p.Cys276Ter
c.828C>A
NP_001182729.1:p.Cys108Ter
NP_001182732.1:p.Cys149Ter
NP_001182727.1:p.Cys276Ter
NP_001182728.1:p.Cys235Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,107,402 - 11,107,402CLINVAR
GRCh371911,218,078 - 11,218,078CLINVAR
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: 10046836
Created: 2015-07-07
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.