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Variant : CV407682 (NM_003383.5(VLDLR):c.82G>A (p.Gly28Arg)) Homo sapiens

Symbol: CV407682
Name: NM_003383.5(VLDLR):c.82G>A (p.Gly28Arg)
Condition: not specified [RCV000486969]
Clinical Significance: uncertain significance
Last Evaluated: 02/23/2017
Review Status: criteria provided, single submitter
Related Genes: VLDLR   VLDLR-AS1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_012741.1:g.5479G>A
NC_000009.12:g.2622271G>A
NC_000009.11:g.2622271G>A
NP_003374.3:p.Gly28Arg
NM_001018056.3:c.82G>A
NM_001322225.2:c.82G>A
NM_001322226.2:c.82G>A
NM_003383.5:c.82G>A
NR_015375.2:n.103C>T
NM_003383.3:c.82G>A
NP_001018066.1:p.Gly28Arg
NP_001309154.1:p.Gly28Arg
NP_001309155.1:p.Gly28Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh3892,622,271 - 2,622,271CLINVAR
GRCh3792,622,271 - 2,622,271CLINVAR
Cytogenetic Map99p24.2CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12902385
Created: 2017-05-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.