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Variant : CV245576 (NM_000527.4(LDLR):c.463T>G (p.Cys155Gly)) Homo sapiens

Symbol: CV245576
Name: NM_000527.4(LDLR):c.463T>G (p.Cys155Gly)
Condition: Familial hypercholesterolemia [RCV000237671]|not provided [RCV000712214]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
Last Evaluated: 01/02/2018
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|research
HGVS Name(s): NM_000527.4:c.463T>G
NM_001195798.2:c.463T>G
NP_001182728.1:p.Cys114Gly
NP_001182727.1:p.Cys155Gly
LRG_274t1:c.463T>G
LRG_274:g.20989T>G
NG_009060.1:g.20989T>G
NC_000019.10:g.11105369T>G
NC_000019.9:g.11216045T>G
c.463T>G
LRG_274p1:p.Cys155Gly
NP_000518.1:p.Cys155Gly
P01130:p.Cys155Gly
NM_001195803.2:c.314-1196T>G
NM_001195800.2:c.314-2023T>G
NM_001195799.2:c.340T>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,105,369 - 11,105,369CLINVAR
GRCh371911,216,045 - 11,216,045CLINVAR
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: 11524666
Created: 2016-08-09
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.