Genomic variant #0000395083

Individual ID 00174323
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.24143240C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID SMARCB1_000015 See all 14 reported entries
Variant remarks Refseq reported:hg18
Reference PubMed: Eaton KW 2011
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 Julia Lopez




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SMARCB1 NM_003073.3 ?/. 4 c.472C>T - r.(?) p.(Arg158*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000175213 DNA SEQ - - SMARCB1 1 Julia Lopez