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Variant : CV228124 (NM_000527.4(LDLR):c.253C>T (p.Gln85Ter)) Homo sapiens

Symbol: CV228124
Name: NM_000527.4(LDLR):c.253C>T (p.Gln85Ter)
Condition: Familial hypercholesterolemia [RCV000211675]
Clinical Significance: pathogenic
Last Evaluated: 12/16/2016
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): p.Gln85*
LRG_274t1:c.253C>T
LRG_274:g.18346C>T
NG_009060.1:g.18346C>T
NC_000019.10:g.11102726C>T
NC_000019.9:g.11213402C>T
LRG_274p1:p.Gln85Ter
NP_000518.1:p.Gln85Ter
c.253C>T
NM_001195800.2:c.253C>T
NM_001195803.2:c.253C>T
NM_001195799.2:c.190+2381C>T
NM_001195798.2:c.253C>T
NP_001182727.1:p.Gln85Ter
NP_001182729.1:p.Gln85Ter
NP_001182732.1:p.Gln85Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,102,726 - 11,102,726CLINVAR
GRCh371911,213,402 - 11,213,402CLINVAR
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: 11088029
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.