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Variant : CV208851 (NM_178152.2(DCX):c.81_85dup (p.Pro29Leufs)) Homo sapiens

Symbol: CV208851
Name: NM_178152.2(DCX):c.81_85dup (p.Pro29Leufs)
Condition: Abnormal cortical gyration [RCV000193837]
Clinical Significance: pathogenic
Last Evaluated: 02/08/2013
Review Status: criteria provided, single submitter
Related Genes: DCX  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_178151.2:c.81_85dup
NC_000023.11:g.111410314_111410318dupGGCTA
NC_000023.10:g.110653542_110653546dupGGCTA
NP_835364.1:p.Pro29Leufs
NP_835365.1:p.Pro29Leufs
NM_178152.2:c.81_85dup
NG_011750.1:g.6861_6865dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X111,410,314 - 111,410,318CLINVAR
GRCh37X110,653,542 - 110,653,546CLINVAR
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: 10406716
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.