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Variant : CV26637 (NM_178151.2(DCX):c.574C>T (p.Arg192Trp)) Homo sapiens

Symbol: CV26637
Name: NM_178151.2(DCX):c.574C>T (p.Arg192Trp)
Condition: Heterotopia [RCV000145864]|Lissencephaly, X-linked [RCV000012357]|Subcortical laminar heterotopia, X-linked [RCV000012358]|X-linked lissencephaly [RCV000012357]|not provided [RCV000423650]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2016
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: DCX  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NM_178152.2:c.574C>T
NG_011750.1:g.16058C>T
NC_000023.11:g.111401121G>A
NC_000023.10:g.110644349G>A
NP_835365.1:p.Arg192Trp
NM_178151.2:c.574C>T
NP_835364.1:p.Arg192Trp
NM_178153.2:c.574C>T
NM_178153.1:c.574C>T
NP_835366.1:p.Arg192Trp
O43602:p.Arg192Trp
Position
Human AssemblyChrPosition (strand)Source
GRCh38X111,401,121 - 111,401,121CLINVAR
GRCh37X110,644,349 - 110,644,349CLINVAR
Cytogenetic MapXXq23CLINVAR
Trait Synonyms: Abnormality of neuronal migration; Heterotopias; LISSENCEPHALY, X-LINKED, 1
Age Of Onset: adolescent|neonatal/infancy
Prevalence: a dutch study reported a prevalence of 1:85,000 for lissencephaly type 1. however, the study presumably included individuals with non-dcx-related lissencephaly.



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8562579
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.