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Variant : CV245324 (NM_000527.4(LDLR):c.-88G>A) Homo sapiens

Symbol: CV245324
Name: NM_000527.4(LDLR):c.-88G>A
Condition: Familial hypercholesterolemia [RCV000237254]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 03/25/2016
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: LDLR   LDLR-AS1  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: literature only
HGVS Name(s): LRG_274t1:c.-88G>A
NM_000527.4:c.-88G>A
LRG_274:g.5081G>A
NG_009060.1:g.5081G>A
NC_000019.10:g.11089461G>A
NC_000019.9:g.11200137G>A
c.-88G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,089,461 - 11,089,461CLINVAR
GRCh371911,200,137 - 11,200,137CLINVAR
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: 11524263
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.