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Variant : CV208843 (NM_178151.2(DCX):c.699_700insTACACTCTGGATGGA (p.Gly233_Lys234insTyrThrLeuAspGly)) Homo sapiens

Symbol: CV208843
Name: NM_178151.2(DCX):c.699_700insTACACTCTGGATGGA (p.Gly233_Lys234insTyrThrLeuAspGly)
Condition: Abnormal cortical gyration [RCV000193000]
Clinical Significance: pathogenic
Last Evaluated: 02/08/2013
Review Status: criteria provided, single submitter
Related Genes: DCX  
Variant Type: insertion (SO:0001650)
Source: CLINVAR
Molecular Consequence: inframe_variant
Evidence: clinical testing
HGVS Name(s): NM_178151.2:c.699_700insTACACTCTGGATGGA
NM_178152.2:c.699_700insTACACTCTGGATGGA
NG_011750.1:g.16183_16184insTACACTCTGGATGGA
NC_000023.11:g.111400995_111400996insTCCATCCAGAGTGTA
NC_000023.10:g.110644223_110644224insTCCATCCAGAGTGTA
NP_835364.1:p.Gly233_Lys234insTyrThrLeuAspGly
NP_835365.1:p.Gly233_Lys234insTyrThrLeuAspGly
Position
Human AssemblyChrPosition (strand)Source
GRCh38X111,400,995 - 111,400,996CLINVAR
GRCh37X110,644,223 - 110,644,224CLINVAR
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: 10408305
Created: 2015-11-10
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.