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Variant : CV171210 (NM_000527.4(LDLR):c.1166C>T (p.Thr389Met)) Homo sapiens

Symbol: CV171210
Name: NM_000527.4(LDLR):c.1166C>T (p.Thr389Met)
Condition: Familial hypercholesterolemia [RCV000237987]|Hypercholesterolaemia [RCV000148590]
Clinical Significance: likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 12/16/2016
Review Status: classified by single submitter|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: 2kb upstream variant|missense variant
Evidence: clinical testing|literature only|research
HGVS Name(s): LRG_274t1:c.1166C>T
NM_000527.4:c.1166C>T
LRG_274:g.27239C>T
NG_009060.1:g.27239C>T
NC_000019.10:g.11111619C>T
NC_000019.9:g.11222295C>T
LRG_274p1:p.Thr389Met
NP_000518.1:p.Thr389Met
c.1166C>T
NM_001195799.2:c.1043C>T
NM_001195800.2:c.662C>T
NM_001195803.2:c.785C>T
NP_001182729.1:p.Thr221Met
NP_001182732.1:p.Thr262Met
NP_001182728.1:p.Thr348Met
NP_001182727.1:p.Thr389Met
NM_000527.4:c.1166C>T
NM_001195798.2:c.1166C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,111,619 - 11,111,619CLINVAR
GRCh371911,222,295 - 11,222,295CLINVAR
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: 9686660
Created: 2015-02-10
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.