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Variant : CV245447 (NM_001195799.2(LDLR):c.190+2395C>G) Homo sapiens

Symbol: CV245447
Name: NM_001195799.2(LDLR):c.190+2395C>G
Condition: Familial hypercholesterolemia [RCV000237969]
Clinical Significance: likely pathogenic
Last Evaluated: 03/25/2016
Review Status: 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: literature only|research
HGVS Name(s): NM_000527.4:c.267C>G
LRG_274:g.18360C>G
NG_009060.1:g.18360C>G
NC_000019.10:g.11102740C>G
NC_000019.9:g.11213416C>G
c.267C>G
LRG_274p1:p.Cys89Trp
NP_000518.1:p.Cys89Trp
LRG_274t1:c.267C>G
NM_001195798.2:c.267C>G
NM_001195800.2:c.267C>G
NM_001195803.2:c.267C>G
NP_001182727.1:p.Cys89Trp
NP_001182729.1:p.Cys89Trp
NP_001182732.1:p.Cys89Trp
NM_001195799.2:c.190+2395C>G
NM_000527.4:c.267C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,102,740 - 11,102,740CLINVAR
GRCh371911,213,416 - 11,213,416CLINVAR
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: 11524955
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.