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Variant : CV245562 (NM_000527.4(LDLR):c.442T>C (p.Cys148Arg)) Homo sapiens

Symbol: CV245562
Name: NM_000527.4(LDLR):c.442T>C (p.Cys148Arg)
Condition: Familial hypercholesterolemia [RCV000238036]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
Last Evaluated: 03/30/2017
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:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing|literature only
HGVS Name(s): LRG_274t1:c.442T>C
LRG_274:g.20968T>C
NG_009060.1:g.20968T>C
NC_000019.10:g.11105348T>C
NC_000019.9:g.11216024T>C
c.442T>C
LRG_274p1:p.Cys148Arg
NP_000518.1:p.Cys148Arg
NM_001195799.2:c.319T>C
NM_001195798.2:c.442T>C
NP_001182728.1:p.Cys107Arg
NM_001195803.2:c.314-1217T>C
NM_001195800.2:c.314-2044T>C
NP_001182727.1:p.Cys148Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,105,348 - 11,105,348CLINVAR
GRCh371911,216,024 - 11,216,024CLINVAR
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: 11525019
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.