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Variant : CV332458 (NM_000527.4(LDLR):c.2389+7G>A) Homo sapiens

Symbol: CV332458
Name: NM_000527.4(LDLR):c.2389+7G>A
Condition: Familial hypercholesterolemia [RCV000404896]|Familial hypercholesterolemias [RCV000775090]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 10/18/2017
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
HGVS Name(s): LRG_274t1:c.2389+7G>A
NM_000527.4:c.2389+7G>A
LRG_274:g.43712G>A
NG_009060.1:g.43712G>A
NC_000019.10:g.11128092G>A
NC_000019.9:g.11238768G>A
NM_001195803.2:c.1855+7G>A
NM_001195800.2:c.1885+7G>A
NM_001195799.2:c.2266+7G>A
NM_001195798.2:c.2389+7G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,128,092 - 11,128,092CLINVAR
GRCh371911,238,768 - 11,238,768CLINVAR
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: 11625926
Created: 2017-01-11
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.