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Variant : CV169902 (NM_178151.2(DCX):c.367del (p.Glu123Lysfs)) Homo sapiens

Symbol: CV169902
Name: NM_178151.2(DCX):c.367del (p.Glu123Lysfs)
Condition: Heterotopia [RCV000145839]
Clinical Significance: pathogenic
Last Evaluated: 02/08/2013
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: DCX  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.111401328delC
NC_000023.10:g.110644556delC
NP_835365.1:p.Glu123Lysfs
NP_835364.1:p.Glu123Lysfs
NM_178151.2:c.367del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X111,401,328 - 111,401,328CLINVAR
GRCh37X110,644,556 - 110,644,556CLINVAR
Cytogenetic MapXXq23CLINVAR
Trait Synonyms: Abnormality of neuronal migration; Heterotopias



References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9682364
Created: 2014-12-09
Species: Homo sapiens
Last Modified: 2019-07-09
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.