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Variant : CV169930 (NM_178151.2(DCX):c.130C>T (p.Gln44Ter)) Homo sapiens

Symbol: CV169930
Name: NM_178151.2(DCX):c.130C>T (p.Gln44Ter)
Condition: Heterotopia [RCV000145809]
Clinical Significance: pathogenic
Last Evaluated: 02/08/2013
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: DCX  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NM_178152.2:c.130C>T
NM_178151.2:c.130C>T
NG_011750.1:g.6910C>T
NC_000023.11:g.111410269G>A
NC_000023.10:g.110653497G>A
NP_835365.1:p.Gln44Ter
NP_835364.1:p.Gln44Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38X111,410,269 - 111,410,269CLINVAR
GRCh37X110,653,497 - 110,653,497CLINVAR
Cytogenetic MapXXq23CLINVAR
Trait Synonyms: Abnormality of neuronal migration; Heterotopias



References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9682335
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.