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Variant : CV642469 (NM_024558.3(VCPKMT):c.99T>G (p.Tyr33Ter)) Homo sapiens

Symbol: CV642469
Name: NM_024558.3(VCPKMT):c.99T>G (p.Tyr33Ter)
Condition: not provided [RCV000807596]
Clinical Significance: uncertain significance
Last Evaluated: 11/15/2018
Review Status: criteria provided, single submitter
Related Genes: VCPKMT  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NR_049739.1:n.126T>G
NP_001035752.1:p.Tyr33Ter
NP_078834.2:p.Tyr33Ter
NM_001040662.2:c.99T>G
NM_024558.3:c.99T>G
NC_000014.9:g.50116454A>C
NC_000014.8:g.50583172A>C
NG_051073.1:g.120240T>G
NM_024558.2:c.99T>G
NR_049738.1:n.126T>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381450,116,454 - 50,116,454CLINVAR
GRCh371450,583,172 - 50,583,172CLINVAR
Cytogenetic Map1414q21.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14703951
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2020-01-21
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.