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Variant : CV198014 (NM_000527.4(LDLR):c.1413A>G (p.Arg471=)) Homo sapiens

Symbol: CV198014
Name: NM_000527.4(LDLR):c.1413A>G (p.Arg471=)
Condition: Familial hypercholesterolemia [RCV000237328]|not specified [RCV000182337]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 05/23/2018
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:0001819)
Source: CLINVAR
Molecular Consequence: 500b downstream variant|synonymous variant
Evidence: clinical testing|literature only|research
HGVS Name(s): LRG_274t1:c.1413A>G
NM_000527.4:c.1413A>G
LRG_274:g.29209A>G
NG_009060.1:g.29209A>G
NC_000019.10:g.11113589A>G
NC_000019.9:g.11224265A>G
LRG_274p1:p.Arg471=
NP_000518.1:p.Arg471=
p.Arg471Arg
c.1413A>G
NM_001195798.2:c.1413A>G
NM_001195800.2:c.909A>G
NC_000019.9:g.11224265A>G
NP_001182727.1:p.Arg471=
NM_001195803.2:c.1032A>G
NP_001182729.1:p.Arg303=
NP_001182732.1:p.Arg344=
NP_001182728.1:p.Arg430=
NM_001195799.2:c.1290A>G
NM_000527.4:c.1413A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,113,589 - 11,113,589CLINVAR
GRCh371911,224,265 - 11,224,265CLINVAR
Cytogenetic Map1919p13.2CLINVAR
Trait Synonyms: AllHighlyPenetrant; 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: 10055553
Created: 2015-08-11
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.