Screening #0000175259

Individual ID 00174369
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 1
Owner name Julia Lopez


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 22 q11.23 1 407 161 2019-02-26 CSS, CSS-3;MRD-15, ID, RTPS-1, SWNTS, SWNTS-1



Variants found

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
22 Parent #1 ?/. g.24133992C>T - - - SMARCB1_000043 Refseq reported: U04847.1 PubMed: van den Munckhof P 2012 - - Germline - - - 0 - Julia Lopez SMARCB1 - - - - - 2 NM_003073.3:c.143C>T - - r.(?) p.(Pro48Leu) - - - - - - - - - - - - - - - - - - -
Legend