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Variant : CV246478 (NM_000527.4(LDLR):c.2037T>A (p.Tyr679Ter)) Homo sapiens

Symbol: CV246478
Name: NM_000527.4(LDLR):c.2037T>A (p.Tyr679Ter)
Condition: Familial hypercholesterolemia [RCV000238543]
Clinical Significance: pathogenic
Last Evaluated: 12/16/2016
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing|literature only
HGVS Name(s): LRG_274t1:c.2037T>A
NM_000527.4:c.2037T>A
LRG_274:g.36039T>A
NG_009060.1:g.36039T>A
NC_000019.10:g.11120419T>A
NC_000019.9:g.11231095T>A
c.2037T>A
LRG_274p1:p.Tyr679Ter
NP_000518.1:p.Tyr679Ter
p.Tyr679*
NM_001195800.2:c.1533T>A
NM_001195803.2:c.1606+186T>A
NM_001195799.2:c.1914T>A
NM_000527.4:c.2037T>A
NM_001195798.2:c.2037T>A
NP_001182729.1:p.Tyr511Ter
NP_001182728.1:p.Tyr638Ter
NP_001182727.1:p.Tyr679Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,120,419 - 11,120,419CLINVAR
GRCh371911,231,095 - 11,231,095CLINVAR
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: 11525508
Created: 2016-08-09
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.