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Variant : CV245885 (NM_000527.4(LDLR):c.941-12G>A) Homo sapiens

Symbol: CV245885
Name: NM_000527.4(LDLR):c.941-12G>A
Condition: Familial hypercholesterolemia [RCV000237608]
Clinical Significance: likely pathogenic|conflicting interpretations of pathogenicity
Last Evaluated: 01/02/2018
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing|literature only
HGVS Name(s): LRG_274t1:c.941-12G>A
NM_000527.4:c.941-12G>A
LRG_274:g.26260G>A
NG_009060.1:g.26260G>A
NC_000019.10:g.11110640G>A
NC_000019.9:g.11221316G>A
c.941-12G>A
NM_001195800.2:c.437-12G>A
NM_001195803.2:c.560-12G>A
NM_001195799.2:c.818-12G>A
NM_001195798.2:c.941-12G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,110,640 - 11,110,640CLINVAR
GRCh371911,221,316 - 11,221,316CLINVAR
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: 11524606
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.