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Variant : CV169899 (NM_178151.2(DCX):c.386C>T (p.Ser129Leu)) Homo sapiens

Symbol: CV169899
Name: NM_178151.2(DCX):c.386C>T (p.Ser129Leu)
Condition: Heterotopia [RCV000145842]
Clinical Significance: pathogenic
Last Evaluated: 08/07/2013
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.386C>T
NM_178151.2:c.386C>T
NG_011750.1:g.15870C>T
NC_000023.11:g.111401309G>A
NC_000023.10:g.110644537G>A
NP_835365.1:p.Ser129Leu
NP_835364.1:p.Ser129Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh38X111,401,309 - 111,401,309CLINVAR
GRCh37X110,644,537 - 110,644,537CLINVAR
Cytogenetic MapXXq23CLINVAR
Trait Synonyms: Abnormality of neuronal migration; Heterotopias



References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9682367
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.