Screening #0000001329

Individual ID 00001558
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 7
Owner name Gijs Santen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ARID1A AT rich interactive domain 1A (SWI-like) 1 p36.1-p35 1 212 157 2018-10-27 CSS, CSS-2;MRD-14, ID
ARID1B AT rich interactive domain 1B (SWI1-like) 6 q25.3 1 449 282 2019-09-16 CSS, CSS-1;MRD-12, ID, MRD-12
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 9 p24.3 1 295 136 2018-08-07 ID, NCBRS
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 19 p13.3 2 288 112 2018-08-07 CSS, CSS-4;MRD-16, ID, RTPS-2
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
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 17 q21.2 1 43 24 2018-08-07 CSS, CSS-5, meningioma



Variants found

7 entries on 1 page. Showing entries 1 - 7.
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     
1 Unknown ?/? g.27059130T>C g.26732639T>C - - ARID1A_000089 - - - - Unknown - - - - - Gijs Santen ARID1A - - - - - - NM_006015.4:c.1804-37T>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
6 Both (homozygous) ?/? g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - Gijs Santen ARID1B - - - - - - NM_020732.3:c.2038-35G>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
6 Both (homozygous) ?/? g.157405761G>A g.157084627G>A - - ARID1B_000035 - - - - Unknown - - - - - Gijs Santen ARID1B - - - - - - NM_020732.3:c.2038-35G>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.2349-10del - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? g.2101545T>A - - - SMARCA2_000032 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.3079-25T>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/? g.11136143C>T g.11025467C>T - - SMARCA4_000033 - - - - De novo - - - - - Gijs Santen SMARCA4 - - - - - - NM_001128844.1:c.3127C>T, NM_001128849.1:c.3127C>T - - r.(?) p.(Arg1043Trp) - - - - - - - - - - - - - - - - - - -
19 Unknown ?/? g.11136143C>T g.11025467C>T - - SMARCA4_000033 - - - - Unknown - - - - - Gijs Santen SMARCA4 - - - - - - NM_001128844.1:c.3127C>T, NM_001128849.1:c.3127C>T - - r.(?) p.(Arg1043Trp) - - - - - - - - - - - - - - - - - - -
Legend