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Variant : CV245614 (NM_000527.4(LDLR):c.519C>G (p.Cys173Trp)) Homo sapiens

Symbol: CV245614
Name: NM_000527.4(LDLR):c.519C>G (p.Cys173Trp)
Condition: Familial hypercholesterolemia [RCV000238354]|Familial hypercholesterolemias [RCV000791359]|not provided [RCV000478384]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
Last Evaluated: 12/26/2018
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing|literature only|provider interpretation
HGVS Name(s): LRG_274t1:c.519C>G
NM_000527.4:c.519C>G
LRG_274:g.21045C>G
NG_009060.1:g.21045C>G
NC_000019.10:g.11105425C>G
NC_000019.9:g.11216101C>G
c.519C>G
LRG_274p1:p.Cys173Trp
NP_000518.1:p.Cys173Trp
NP_000518.1:p.C173W
P01130:p.Cys173Trp
NM_001195803.2:c.314-1140C>G
NM_001195800.2:c.314-1967C>G
NM_001195799.2:c.396C>G
NM_000527.4:c.519C>G
NM_001195798.2:c.519C>G
NP_001182728.1:p.Cys132Trp
NP_001182727.1:p.Cys173Trp
NP_000518.1:p.C173W
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,105,425 - 11,105,425CLINVAR
GRCh371911,216,101 - 11,216,101CLINVAR
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: 11525325
Created: 2016-08-09
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.