Variant #0000537752 (NC_000009.11:g.2029069C>T, SMARCA2(NM_003070.3):c.47C>T)

Chromosome 9
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.2029069C>T
DNA change (hg38) g.2029069C>T
Published as SMARCA2(NM_003070.3):c.47C>T (p.(Ser16Leu))
ISCN -
DB-ID SMARCA2_000110
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_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMARCA2 NM_003070.3 ?/. - c.47C>T r.(?) p.(Ser16Leu)