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Variant : CV751648 (NM_003383.5(VLDLR):c.15G>A (p.Ala5=)) Homo sapiens

Symbol: CV751648
Name: NM_003383.5(VLDLR):c.15G>A (p.Ala5=)
Condition: not provided [RCV000922796]
Clinical Significance: likely benign
Last Evaluated: 07/07/2018
Review Status: criteria provided, single submitter
Related Genes: VLDLR   VLDLR-AS1  
Variant Type: single nucleotide variant (SO:0001619)
Source: CLINVAR
Molecular Consequence: non-coding transcript variant
Evidence: clinical testing
HGVS Name(s): NC_000009.11:g.2622204G>A
NM_003383.4:c.15G>A
NP_001018066.1:p.Ala5=
NP_001309155.1:p.Ala5=
NM_001018056.3:c.15G>A
NM_001322225.2:c.15G>A
NM_001322226.2:c.15G>A
NM_003383.5:c.15G>A
NG_012741.1:g.5412G>A
NC_000009.12:g.2622204G>A
NR_015375.2:n.170C>T
NP_001309154.1:p.Ala5=
NP_003374.3:p.Ala5=
Position
Human AssemblyChrPosition (strand)Source
GRCh3892,622,204 - 2,622,204CLINVAR
GRCh3792,622,204 - 2,622,204CLINVAR
Cytogenetic Map99p24.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15146890
Created: 2020-01-07
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.