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Variant : CV169849 (NM_178151.2(DCX):c.907C>T (p.Arg303Ter)) Homo sapiens

Symbol: CV169849
Name: NM_178151.2(DCX):c.907C>T (p.Arg303Ter)
Condition: Heterotopia [RCV000145895]|not provided [RCV000493373]
Clinical Significance: pathogenic
Last Evaluated: 05/16/2017
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
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.907C>T
NM_178151.2:c.907C>T
NG_011750.1:g.86236C>T
NC_000023.11:g.111330943G>A
NC_000023.10:g.110574171G>A
NP_835365.1:p.Arg303Ter
NP_835364.1:p.Arg303Ter
NM_178153.2:c.907C>T
NM_178153.1:c.907C>T
NP_835366.1:p.Arg303Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38X111,330,943 - 111,330,943CLINVAR
GRCh37X110,574,171 - 110,574,171CLINVAR
Cytogenetic MapXXq23CLINVAR
Trait Synonyms: Abnormality of neuronal migration; Heterotopias



References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9682418
Created: 2014-12-09
Species: Homo sapiens
Last Modified: 2019-07-16
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.