Genomic variant #0000395062

Individual ID 00174302
Chromosome 22
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.24158596_24161226dup
DNA change (hg38) -
Published as hg18 (chr22:g.22488596_22491226dup2631)
ISCN -
DB-ID SMARCB1_000119 See all 6 reported entries
Variant remarks -
Reference PubMed: Swensen JJ 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Julia Lopez




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SMARCB1 NM_003073.3 ?/. 5i_6i c.629-361_795+2103dup - r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000175192 DNA SEQ - - SMARCB1 1 Julia Lopez