Variant #0000655115 (NC_000004.11:g.158262477T>G, GRIA2(NM_000826.3):c.1906T>G)

Chromosome 4
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.158262477T>G
DNA change (hg38) g.157341325T>G
Published as GRIA2(NM_000826.3):c.1906T>G (p.S636A)
ISCN -
DB-ID GRIA2_000024
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) Variant not found in online data sets
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GRIA2 NM_000826.3 +?/. - c.1906T>G r.(?) p.(Ser636Ala)