Variant #0000332533 (NC_000009.11:g.2029183C>T, SMARCA2(NM_003070.3):c.161C>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.2029183C>T
DNA change (hg38) g.2029183C>T
Published as SMARCA2(NM_003070.3):c.161C>T (p.(Ser54Phe))
ISCN -
DB-ID SMARCA2_000111
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
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.161C>T r.(?) p.(Ser54Phe)