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Variant : CV169859 (NM_178151.2(DCX):c.724T>A (p.Phe242Ile)) Homo sapiens

Symbol: CV169859
Name: NM_178151.2(DCX):c.724T>A (p.Phe242Ile)
Condition: Heterotopia [RCV000145885]
Clinical Significance: likely pathogenic
Last Evaluated: 08/27/2013
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: DCX  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_178152.2:c.724T>A
NM_178151.2:c.724T>A
NG_011750.1:g.84044T>A
NC_000023.11:g.111333135A>T
NC_000023.10:g.110576363A>T
NP_835365.1:p.Phe242Ile
NP_835364.1:p.Phe242Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh38X111,333,135 - 111,333,135CLINVAR
GRCh37X110,576,363 - 110,576,363CLINVAR
Cytogenetic MapXXq23CLINVAR
Trait Synonyms: Abnormality of neuronal migration; Heterotopias



References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9682408
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.