Variant #0000722464 (NC_000009.11:g.2076261C>T, SMARCA2(NM_003070.3):c.1968C>T)

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.2076261C>T
DNA change (hg38) -
Published as SMARCA2(NM_003070.4):c.1968C>T (p.T656=)
ISCN -
DB-ID SMARCA2_000159
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) 4.0E-5 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMARCA2 NM_003070.3 -?/. - c.1968C>T r.(?) p.(Thr656=)