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Variant : CV26645 (NM_178152.2(DCX):c.691_692del (p.Leu231Glyfs)) Homo sapiens

Symbol: CV26645
Name: NM_178152.2(DCX):c.691_692del (p.Leu231Glyfs)
Condition: Subcortical laminar heterotopia, X-linked [RCV000012370]
Clinical Significance: pathogenic
Last Evaluated: 12/16/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: DCX  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: literature only
HGVS Name(s): NM_178153.2:c.691_692delCT
NM_178153.2:c.691_692del
NM_178152.2:c.691_692del
NG_011750.1:g.16175_16176del
NC_000023.11:g.111401003_111401004del
NC_000023.10:g.110644231_110644232del
NP_835365.1:p.Leu231Glyfs
NP_835366.1:p.Leu231Glyfs
Position
Human AssemblyChrPosition (strand)Source
GRCh38X111,401,003 - 111,401,004CLINVAR
GRCh37X110,644,231 - 110,644,232CLINVAR
Cytogenetic MapXXq23CLINVAR



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8562587
Created: 2014-05-13
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.