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Variant : CV246642 (NM_000527.4(LDLR):c.2548-2A>G) Homo sapiens

Symbol: CV246642
Name: NM_000527.4(LDLR):c.2548-2A>G
Condition: Familial hypercholesterolemia [RCV000237388]
Clinical Significance: likely pathogenic
Last Evaluated: 03/25/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: literature only
HGVS Name(s): LRG_274t1:c.2548-2A>G
NM_000527.4:c.2548-2A>G
LRG_274:g.46899A>G
NG_009060.1:g.46899A>G
NC_000019.10:g.11131279A>G
NC_000019.9:g.11241955A>G
c.2548-2A>G
NM_001195803.2:c.2014-2A>G
NM_001195800.2:c.2044-2A>G
NM_001195799.2:c.2425-2A>G
NM_001195798.2:c.2548-8A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,131,279 - 11,131,279CLINVAR
GRCh371911,241,955 - 11,241,955CLINVAR
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: 11524392
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.