Variant #0000368381 (NC_000009.11:g.2081873_2081878delinsT, SMARCA2(NM_003070.3):c.2226_2231delinsT)

Individual ID 00163915
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.2081873_2081878delinsT
DNA change (hg38) g.2081873_2081878delinsT
Published as -
ISCN -
DB-ID SMARCA2_000095
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner IMGAG
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMARCA2 NM_003070.3 +?/. - c.2226_2231delinsT r.(?) p.(Leu743Argfs*6)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000164779 DNA SEQ - - - 1 IMGAG