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Variant : CV424292 (NM_000527.4(LDLR):c.116G>T (p.Cys39Phe)) Homo sapiens

Symbol: CV424292
Name: NM_000527.4(LDLR):c.116G>T (p.Cys39Phe)
Condition: Familial hypercholesterolemia [RCV000495891]
Clinical Significance: pathogenic
Last Evaluated: 03/30/2017
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_001195803.2:c.116G>T
NP_001182727.1:p.Cys39Phe
NP_001182728.1:p.Cys39Phe
NP_001182729.1:p.Cys39Phe
LRG_274t1:c.116G>T
LRG_274:g.15891G>T
NG_009060.1:g.15891G>T
NC_000019.10:g.11100271G>T
NC_000019.9:g.11210947G>T
LRG_274p1:p.Cys39Phe
NP_000518.1:p.Cys39Phe
NM_001195798.2:c.116G>T
NM_001195799.2:c.116G>T
NM_001195800.2:c.116G>T
NP_001182732.1:p.Cys39Phe
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,100,271 - 11,100,271CLINVAR
GRCh371911,210,947 - 11,210,947CLINVAR
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: 13208082
Created: 2017-08-08
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.