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Variant : CV434544 (NM_201263.2(WARS2):c.295_297CTT[1] (p.Leu100del)) Homo sapiens

Symbol: CV434544
Name: NM_201263.2(WARS2):c.295_297CTT[1] (p.Leu100del)
Condition: Inborn genetic diseases [RCV000623999]|NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES [RCV000509070]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 10/10/2017
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: WARS2  
Variant Type: microsatellite (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion
Evidence: clinical testing|literature only
HGVS Name(s): NM_015836.3:c.295_297CTT[1]
NM_015836.3:c.298_300delCTT
NP_056651.1:p.Leu100del
NM_201263.2:c.295_297CTT[1]
NG_050658.1:g.69386_69388CTT[1]
NC_000001.11:g.119076400_119076402GAA[1]
NC_000001.10:g.119619023_119619025GAA[1]
NP_957715.1:p.Leu100del
Position
Human AssemblyChrPosition (strand)Source
GRCh381119,076,398 - 119,076,400CLINVAR
GRCh371119,619,021 - 119,619,023CLINVAR
Cytogenetic Map11p12CLINVAR


Annotation    (Toggle Annotation Detail/Summary View)

References - uncurated

Additional Information

External Database Links
  
CRRD Object Information
CRRD ID: 13442627
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2019-10-08
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.