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Variant : CV652990 (NM_000527.4(LDLR):c.1357_1359-37del) Homo sapiens

Symbol: CV652990
Name: NM_000527.4(LDLR):c.1357_1359-37del
Condition: Familial hypercholesterolemias [RCV000810973]
Clinical Significance: likely pathogenic
Last Evaluated: 11/26/2018
Review Status: criteria provided, single submitter
Related Genes: LDLR   MIR6886  
Variant Type: deletion (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Evidence: clinical testing
HGVS Name(s): LRG_274t1:c.1357_1359-37del
NM_001195799.2:c.1234_1236-37del
NM_000527.4:c.1357_1359-37del
NM_001195798.2:c.1357_1359-37del
NM_001195800.2:c.853_855-37del
NM_001195803.2:c.976_978-37del
LRG_274:g.29068_29118del
NG_009060.1:g.29068_29118del
NC_000019.10:g.11113448_11113498del
NC_000019.9:g.11224124_11224174del
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,113,448 - 11,113,498CLINVAR
GRCh371911,224,122 - 11,224,172CLINVAR
Cytogenetic Map1919p13.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14714665
Created: 2019-09-06
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.