Variant #0000537753 (NC_000009.11:g.2039776A>G, SMARCA2(NM_003070.3):c.666A>G)

Chromosome 9
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.2039776A>G
DNA change (hg38) g.2039776A>G
Published as SMARCA2(NM_003070.4):c.666_669delACAGinsGCAG (p.Q222_Q223=)
ISCN -
DB-ID SMARCA2_000114
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMARCA2 NM_003070.3 -?/. - c.666A>G r.(?) p.(Gln222=)