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 (large NGS studies) 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