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Variant : CV92943 (NM_178151.2(DCX):c.305G>A (p.Arg102His)) Homo sapiens

Symbol: CV92943
Name: NM_178151.2(DCX):c.305G>A (p.Arg102His)
Condition: Heterotopia [RCV000145834]|Malignant melanoma [RCV000073041]|not provided [RCV000487771]
Clinical Significance: pathogenic|likely pathogenic|not provided
Last Evaluated: 09/30/2016
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided|no assertion provided|not classified by submitter
Related Genes: DCX  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing|literature only|not provided
HGVS Name(s): NM_001195553.1:c.305G>A
NM_178153.2:c.305G>A
NM_178152.2:c.305G>A
NM_178151.2:c.305G>A
NM_000555.3:c.548G>A
NG_011750.1:g.7085G>A
NC_000023.11:g.111410094C>T
NC_000023.10:g.110653322C>T
NP_835365.1:p.Arg102His
NP_835364.1:p.Arg102His
NC_000023.9:g.110539978C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X111,410,094 - 111,410,094CLINVAR
GRCh37X110,653,322 - 110,653,322CLINVAR
Build 36X110,539,978 - 110,539,978CLINVAR
Cytogenetic MapXXq23CLINVAR
Trait Synonyms: Abnormality of neuronal migration; Heterotopias



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8637717
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.