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Variant : CV538577 (NM_000527.4(LDLR):c.1744C>G (p.Leu582Val)) Homo sapiens

Symbol: CV538577
Name: NM_000527.4(LDLR):c.1744C>G (p.Leu582Val)
Condition: Familial hypercholesterolemia [RCV000660718]
Clinical Significance: uncertain significance
Last Evaluated: 01/02/2018
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001195800.2:c.1240C>G
NP_001182729.1:p.Leu414Val
NC_000019.10:g.11116897C>G
NG_009060.1:g.32517C>G
NP_000518.1:p.Leu582Val
NM_000527.4:c.1744C>G
LRG_274:g.32517C>G
LRG_274p1:p.Leu582Val
LRG_274t1:c.1744C>G
NC_000019.9:g.11227573C>G
NM_001195803.2:c.1363C>G
NM_001195799.2:c.1621C>G
NM_000527.4:c.1744C>G
NM_001195798.2:c.1744C>G
NP_001182732.1:p.Leu455Val
NP_001182728.1:p.Leu541Val
NP_001182727.1:p.Leu582Val
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,116,897 - 11,116,897CLINVAR
GRCh371911,227,573 - 11,227,573CLINVAR
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



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13704340
Created: 2018-08-07
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.