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Variant : CV619797 (NM_000527.4(LDLR):c.694+9G>A) Homo sapiens

Symbol: CV619797
Name: NM_000527.4(LDLR):c.694+9G>A
Condition: Familial hypercholesterolemias [RCV000775603]|not specified [RCV000780375]
Clinical Significance: benign|likely benign
Last Evaluated: 04/23/2018
Review Status: 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.694+9G>A
NM_000527.4:c.694+9G>A
LRG_274:g.21229G>A
NC_000019.10:g.11105609G>A
NG_009060.1:g.21229G>A
NC_000019.9:g.11216285G>A
NM_001195800.2:c.314-1783G>A
NM_001195803.2:c.314-956G>A
NM_001195799.2:c.571+9G>A
NM_001195798.2:c.694+9G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,105,609 - 11,105,609CLINVAR
GRCh371911,216,285 - 11,216,285CLINVAR
Cytogenetic Map1919p13.2CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14689402
Created: 2019-06-11
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.