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Variant : CV228156 (NM_000527.4(LDLR):c.1048C>T (p.Arg350Ter)) Homo sapiens

Symbol: CV228156
Name: NM_000527.4(LDLR):c.1048C>T (p.Arg350Ter)
Condition: Familial hypercholesterolemia [RCV000211692]|Familial hypercholesterolemias [RCV000771543]|not provided [RCV000520229]
Clinical Significance: pathogenic
Last Evaluated: 08/25/2017
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): p.Arg350*
LRG_274t1:c.1048C>T
NM_000527.4:c.1048C>T
LRG_274:g.26379C>T
NG_009060.1:g.26379C>T
NC_000019.10:g.11110759C>T
NC_000019.9:g.11221435C>T
LRG_274p1:p.Arg350Ter
NP_000518.1:p.Arg350Ter
c.1048C>T
NM_000527.4:c.1048C>T
NM_001195798.2:c.1048C>T
NM_001195800.2:c.544C>T
NM_001195803.2:c.667C>T
NM_001195799.2:c.925C>T
NP_001182729.1:p.Arg182Ter
NP_001182732.1:p.Arg223Ter
NP_001182728.1:p.Arg309Ter
NP_001182727.1:p.Arg350Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,110,759 - 11,110,759CLINVAR
GRCh371911,221,435 - 11,221,435CLINVAR
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: 11087814
Created: 2016-06-07
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.