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Variant : CV407681 (NM_003383.5(VLDLR):c.-19_-18insGGCACC) Homo sapiens

Symbol: CV407681
Name: NM_003383.5(VLDLR):c.-19_-18insGGCACC
Condition: not specified [RCV000484276]
Clinical Significance: likely benign
Last Evaluated: 01/22/2016
Review Status: criteria provided, single submitter
Related Genes: VLDLR   VLDLR-AS1  
Variant Type: insertion (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_012741.1:g.5379_5380insGGCACC
NC_000009.12:g.2622171_2622172insGGCACC
NC_000009.11:g.2622171_2622172insGGCACC
NM_003383.3:c.-19_-18insGGCACC
NM_001018056.3:c.-19_-18insGGCACC
NM_001322225.2:c.-19_-18insGGCACC
NM_001322226.2:c.-19_-18insGGCACC
NM_003383.5:c.-19_-18insGGCACC
NR_015375.2:n.203_204insGTGCCG
Position
Human AssemblyChrPosition (strand)Source
GRCh3892,622,170 - 2,622,171CLINVAR
GRCh3792,622,170 - 2,622,171CLINVAR
Cytogenetic Map99p24.2CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12901264
Created: 2017-05-09
Species: Homo sapiens
Last Modified: 2020-03-17
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.