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Variant : CV181266 (NM_001195798.2(LDLR):c.1747C>G (p.His583Asp)) Homo sapiens

Symbol: CV181266
Name: NM_001195798.2(LDLR):c.1747C>G (p.His583Asp)
Condition: Familial hypercholesterolemia [RCV000237247]|not provided [RCV000161999]
Clinical Significance: likely pathogenic|not provided
Last Evaluated: 03/25/2016
Review Status: criteria provided, single submitter|no assertion provided|not classified by submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001536)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: in vitro|literature only
HGVS Name(s): LRG_274t1:c.1747C>G
NM_000527.4:c.1747C>G
LRG_274:g.32520C>G
NG_009060.1:g.32520C>G
NC_000019.10:g.11116900C>G
NC_000019.9:g.11227576C>G
LRG_274p1:p.His583Asp
NP_000518.1:p.His583Asp
c.1747C>G
NM_001195800.2:c.1243C>G
NM_001195798.2:c.1747C>G
NP_001182732.1:p.His456Asp
NP_001182728.1:p.His542Asp
NP_001182727.1:p.His583Asp
NM_001195803.2:c.1366C>G
NM_001195799.2:c.1624C>G
NM_000527.4:c.1747C>G
NP_001182729.1:p.His415Asp
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,116,900 - 11,116,900CLINVAR
GRCh371911,227,576 - 11,227,576CLINVAR
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: 9832204
Created: 2015-03-10
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.