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Variant : CV362665 (NM_000527.4(LDLR):c.53C>T (p.Ala18Val)) Homo sapiens

Symbol: CV362665
Name: NM_000527.4(LDLR):c.53C>T (p.Ala18Val)
Condition: Familial hypercholesterolemia [RCV000417268]
Clinical Significance: likely benign
Last Evaluated: 12/16/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR   LDLR-AS1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001195798.2:c.53C>T
NM_001195799.2:c.53C>T
NM_001195800.2:c.53C>T
NM_001195803.2:c.53C>T
LRG_274t1:c.53C>T
LRG_274:g.5221C>T
NG_009060.1:g.5221C>T
NC_000019.10:g.11089601C>T
NC_000019.9:g.11200277C>T
LRG_274p1:p.Ala18Val
NP_000518.1:p.Ala18Val
NP_001182729.1:p.Ala18Val
NP_001182732.1:p.Ala18Val
NP_001182727.1:p.Ala18Val
NP_001182728.1:p.Ala18Val
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,089,601 - 11,089,601CLINVAR
GRCh371911,200,277 - 11,200,277CLINVAR
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: 12832788
Created: 2017-04-11
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.