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Variant : CV502568 (NM_003383.5(VLDLR):c.18C>T (p.Leu6=)) Homo sapiens

Symbol: CV502568
Name: NM_003383.5(VLDLR):c.18C>T (p.Leu6=)
Condition: not specified [RCV000600746]
Clinical Significance: likely benign
Last Evaluated: 06/05/2017
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|synonymous variant
Evidence: clinical testing
HGVS Name(s): NC_000009.11:g.2622207C>T
NM_003383.3:c.18C>T
NG_012741.1:g.5415C>T
NP_003374.3:p.Leu6=
NC_000009.12:g.2622207C>T
NP_001309155.1:p.Leu6=
NM_001018056.3:c.18C>T
NM_001322225.2:c.18C>T
NM_001322226.2:c.18C>T
NM_003383.5:c.18C>T
NR_015375.2:n.167G>A
NP_001018066.1:p.Leu6=
NP_001309154.1:p.Leu6=
Position
Human AssemblyChrPosition (strand)Source
GRCh3892,622,207 - 2,622,207CLINVAR
GRCh3792,622,207 - 2,622,207CLINVAR
Cytogenetic Map99p24.2CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13530565
Created: 2018-05-08
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.