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Variant : CV208841 (NM_178151.2(DCX):c.875_876insA (p.Thr293Aspfs)) Homo sapiens

Symbol: CV208841
Name: NM_178151.2(DCX):c.875_876insA (p.Thr293Aspfs)
Condition: Abnormal cortical gyration [RCV000193265]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 10/31/2014
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: DCX  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.111330975dupT
NC_000023.11:g.111330974_111330975insT
NC_000023.10:g.110574203dupT
NP_835364.1:p.Thr293Aspfs
NP_835365.1:p.Thr293Aspfs
NM_178151.2:c.875_876insA
Position
Human AssemblyChrPosition (strand)Source
GRCh38X111,330,975 - 111,330,975CLINVAR
GRCh37X110,574,203 - 110,574,203CLINVAR
Cytogenetic MapXXq23CLINVAR
Trait Synonyms: Abnormal gyration; Cerebral gyral anomalies



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10406589
Created: 2015-11-10
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.