Variant #0000474864 (NC_000004.11:g.158257840del, GRIA2(NM_000826.3):c.1785del)

Individual ID 00231359
Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.158257840del
DNA change (hg38) g.157336688del
Published as -
ISCN -
DB-ID GRIA2_000010
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Stephanie Efthymiou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GRIA2 NM_000826.3 +/. - c.1785del r.(?) p.(Phe595Leufs*37)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000232457 DNA SEQ-NG-I - - - 1 Stephanie Efthymiou