Variant #0000537799 (NC_000009.11:g.2104080G>A, SMARCA2(NM_003070.3):c.3203G>A)

Chromosome 9
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.2104080G>A
DNA change (hg38) g.2104080G>A
Published as -
ISCN -
DB-ID SMARCA2_000135
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_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMARCA2 NM_003070.3 +?/. - c.3203G>A r.(?) p.(Arg1068Gln)