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Variant : CV228207 (NM_000527.4(LDLR):c.2483A>C (p.Tyr828Ser)) Homo sapiens

Symbol: CV228207
Name: NM_000527.4(LDLR):c.2483A>C (p.Tyr828Ser)
Condition: Familial hypercholesterolemia [RCV000211561]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
Last Evaluated: 03/25/2016
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter|no assertion criteria provided
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_274t1:c.2483A>C
LRG_274:g.45226A>C
NG_009060.1:g.45226A>C
NC_000019.10:g.11129606A>C
NC_000019.9:g.11240282A>C
LRG_274p1:p.Tyr828Ser
NP_000518.1:p.Tyr828Ser
c.2483A>C
NM_001195803.2:c.1949A>C
NM_001195800.2:c.1979A>C
NM_001195799.2:c.2360A>C
NM_001195798.2:c.2483A>C
NP_001182732.1:p.Tyr650Ser
NP_001182729.1:p.Tyr660Ser
NP_001182728.1:p.Tyr787Ser
NP_001182727.1:p.Tyr828Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,129,606 - 11,129,606CLINVAR
GRCh371911,240,282 - 11,240,282CLINVAR
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: 11087759
Created: 2016-06-07
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.