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Variant : CV205477 (NM_001206670.1(PLA2G4E):c.1717A>G (p.Met573Val)) Homo sapiens

Symbol: CV205477
Name: NM_001206670.1(PLA2G4E):c.1717A>G (p.Met573Val)
Condition: Abnormality of neuronal migration [RCV000201370]
Clinical Significance: benign
Last Evaluated: 10/31/2014
Review Status: no assertion criteria provided
Related Genes: PLA2G4E   PLA2G4E-AS1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001206670.1:c.1717A>G
NC_000015.10:g.41989421T>C
NC_000015.9:g.42281619T>C
NP_001193599.1:p.Met573Val
NG_052806.1:g.66283A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381541,989,421 - 41,989,421CLINVAR
GRCh371542,281,619 - 42,281,619CLINVAR
Cytogenetic Map1515q15.1CLINVAR
Trait Synonyms: Abnormal neuronal migration; Heterotopias/abnormal migration; Migrational brain disorder; Neuronal migration disorder



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10411811
Created: 2015-11-10
Species: Homo sapiens
Last Modified: 2020-01-14
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.