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Variant : CV246171 (NM_000527.4(LDLR):c.1463T>C (p.Ile488Thr)) Homo sapiens

Symbol: CV246171
Name: NM_000527.4(LDLR):c.1463T>C (p.Ile488Thr)
Condition: Familial hypercholesterolemia [RCV000238089]|Familial hypercholesterolemias [RCV000791391]
Clinical Significance: likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 09/26/2018
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|literature only|research
HGVS Name(s): NM_000527.4:c.1463T>C
LRG_274t1:c.1463T>C
LRG_274:g.29259T>C
NG_009060.1:g.29259T>C
NC_000019.10:g.11113639T>C
NC_000019.9:g.11224315T>C
c.1463T>C
LRG_274p1:p.Ile488Thr
NP_000518.1:p.Ile488Thr
NM_001195803.2:c.1082T>C
NM_001195799.2:c.1340T>C
NM_001195800.2:c.959T>C
NP_001182729.1:p.Ile320Thr
NP_001182732.1:p.Ile361Thr
NP_001182728.1:p.Ile447Thr
NP_001182727.1:p.Ile488Thr
NM_001195798.2:c.1463T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,113,639 - 11,113,639CLINVAR
GRCh371911,224,315 - 11,224,315CLINVAR
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: 11525071
Created: 2016-08-09
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.