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Variant : CV428996 (NM_003383.5(VLDLR):c.78A>T (p.Gly26=)) Homo sapiens

Symbol: CV428996
Name: NM_003383.5(VLDLR):c.78A>T (p.Gly26=)
Condition: not specified [RCV000502798]
Clinical Significance: uncertain significance
Last Evaluated: 12/19/2016
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): NG_012741.1:g.5475A>T
NC_000009.12:g.2622267A>T
NC_000009.11:g.2622267A>T
NM_003383.3:c.78A>T
NP_003374.3:p.Gly26=
NP_001018066.1:p.Gly26=
NP_001309154.1:p.Gly26=
NP_001309155.1:p.Gly26=
NM_001018056.3:c.78A>T
NM_001322225.2:c.78A>T
NM_001322226.2:c.78A>T
NM_003383.5:c.78A>T
NR_015375.2:n.107T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh3892,622,267 - 2,622,267CLINVAR
GRCh3792,622,267 - 2,622,267CLINVAR
Cytogenetic Map99p24.2CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13215743
Created: 2017-09-12
Species: Homo sapiens
Last Modified: 2020-03-31
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.