Genomic variant #0000076972

Individual ID 00048026
Chromosome 22
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.24175863_24175865del
DNA change (hg38) g.23833676_23833678del
Published as -
ISCN -
DB-ID SMARCB1_000001 See all 19 reported entries
Variant remarks -
Reference PubMed: Tsurusaki 2014
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Eline van der Sluijs
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMARCB1 NM_003073.3 +/. - c.1091_1093del r.(?) p.(Lys364del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000048151 DNA SEQ - - SMARCB1 1 Eline van der Sluijs