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Variant : CV407680 (NM_003383.5(VLDLR):c.-42_-40GGC[6]) Homo sapiens

Symbol: CV407680
Name: NM_003383.5(VLDLR):c.-42_-40GGC[6]
Condition: not specified [RCV000481183]
Clinical Significance: likely benign
Last Evaluated: 10/13/2017
Review Status: criteria provided, single submitter
Related Genes: VLDLR   VLDLR-AS1  
Variant Type: microsatellite (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_003383.3:c.-24_-19delGGCGGC
NM_003383.5:c.-42_-40GGC[6]
NM_001018056.3:c.-42_-40GGC[6]
NM_001322225.2:c.-42_-40GGC[6]
NM_001322226.2:c.-42_-40GGC[6]
NC_000009.12:g.2622148_2622150GGC[6]
NC_000009.11:g.2622148_2622150GGC[6]
NR_015375.2:n.204_206CCG[6]
NG_012741.1:g.5356_5358GGC[6]
Position
Human AssemblyChrPosition (strand)Source
GRCh3892,622,147 - 2,622,152CLINVAR
GRCh3792,622,147 - 2,622,152CLINVAR
Cytogenetic Map99p24.2CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12899885
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.