Variant #0000332540 (NC_000009.11:g.2039803_2039817del, SMARCA2(NM_003070.3):c.693_707del)

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.2039803_2039817del
DNA change (hg38) g.2039803_2039817del
Published as SMARCA2(NM_003070.3):c.667_681del (p.(Gln228_Gln232del)), SMARCA2(NM_003070.4):c.693_707delGCAGCAGCAGCAGCA (p.Q234_Q238del)
ISCN -
DB-ID SMARCA2_000068 See all 2 reported entries
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.693_707del r.(?) p.(Gln234_Gln238del)