Variant #0000298382 (NC_000009.11:g.2039778_2039779del, SMARCA2(NM_003070.3):c.668_669del)

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.2039778_2039779del
DNA change (hg38) g.2039778_2039779del
Published as SMARCA2(NM_003070.4):c.668_669delAG (p.Q223Pfs*35)
ISCN -
DB-ID SMARCA2_000069
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 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     
SMARCA2 NM_003070.3 ?/. - c.668_669del r.(?) p.(Gln223ProfsTer35)