Variant #0000521921 (NC_000004.11:g.158282733G>A, GRIA2(NM_000826.3):c.2335G>A)

Chromosome 4
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.158282733G>A
DNA change (hg38) g.157361581G>A
Published as GRIA2(NM_000826.3):c.2335G>A (p.V779I)
ISCN -
DB-ID GRIA2_000023
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GRIA2 NM_000826.3 ?/. - c.2335G>A r.(?) p.(Val779Ile)