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Variant : CV181222 (NM_000527.4(LDLR):c.241C>T (p.Arg81Cys)) Homo sapiens

Symbol: CV181222
Name: NM_000527.4(LDLR):c.241C>T (p.Arg81Cys)
Condition: Early-onset coronary artery disease [RCV000586143]|Familial hypercholesterolemia - homozygous [RCV000826092]|Familial hypercholesterolemia [RCV000237918]|not provided [RCV000161952]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
Last Evaluated: 02/13/2018
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter|no assertion provided|not classified by submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant|missense variant
Evidence: clinical testing|in vitro|literature only|research
HGVS Name(s): NM_000527.4:c.241C>T
LRG_274t1:c.241C>T
LRG_274:g.18334C>T
NG_009060.1:g.18334C>T
NC_000019.10:g.11102714C>T
NC_000019.9:g.11213390C>T
LRG_274p1:p.Arg81Cys
NP_000518.1:p.Arg81Cys
NM_001195799.2:c.190+2369C>T
NM_001195803.2:c.241C>T
NP_001182729.1:p.Arg81Cys
NP_001182732.1:p.Arg81Cys
c.241C>T
NM_001195800.2:c.241C>T
NP_001182727.1:p.Arg81Cys
NM_001195798.2:c.241C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,102,714 - 11,102,714CLINVAR
GRCh371911,213,390 - 11,213,390CLINVAR
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: 9832164
Created: 2015-03-10
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.