Screening #0000001284

Individual ID 00001513
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 8
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 1 217 160 2020-09-15 CSS, CSS2;MRD14, ID
ARID1B AT rich interactive domain 1B (SWI1-like) 6 q25.3 1 464 281 2020-09-15 CSS, CSS1;MRD12, ID, MRD-12
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 9 p24.3 1 299 134 2020-09-15 ID, NCBRS
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 19 p13.3 2 314 137 2020-09-15 CSS, CSS4;MRD16, ID, RTPS-2
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 22 q11.23 1 406 156 2020-08-06 CSS, CSS3;MRD15, 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 25 2020-07-26 CSS, CSS5, meningioma



Variants found

8 entries on 1 page. Showing entries 1 - 8.
Legend  

Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
1 Unknown ?/? - VUS g.27057621A>C g.26731130A>C - - ARID1A_000088 - - - - Unknown - - - - - Gijs Santen ARID1A - - - - - - NM_006015.4:c.1351-22A>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/? - VUS g.27089446G>C g.26762955G>C - - ARID1A_000090 - - - - Unknown - - - - - Gijs Santen ARID1A - - - - - - NM_006015.4:c.2420-18G>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/? - VUS g.27107272dup g.26780781dup - - ARID1A_000096 - - - - Unknown - - - - - Gijs Santen ARID1A - - - - - - NM_006015.4:c.*25dup - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/? - VUS g.157100285dup g.156779151dup - - ARID1B_000052 - - - - De novo - - - - - Gijs Santen ARID1B - - - - - - NM_020732.3:c.1222dup - r.(?) p.(Gln408Profs*127) - - - - - - - - - - - - - - - - - - - -
6 Unknown ?/? - VUS g.157431564A>G g.157110430A>G - - ARID1B_000025 - - - - Unknown - - - - - Gijs Santen ARID1B - - - - - - NM_020732.3:c.2282-42A>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? - VUS g.2088650del g.2088650del - - SMARCA2_000037 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.2883+37del - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
9 Unknown ?/? - VUS g.2101545T>A g.2101545T>A - - SMARCA2_000032 - - - - Unknown - - - - - Gijs Santen SMARCA2 - - - - - - NM_003070.3:c.3079-25T>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
19 Unknown ?/? - VUS g.11129600C>T g.11018924C>T - - SMARCA4_000032 - - - - Unknown - - - - - Gijs Santen SMARCA4 - - - - - - NM_001128844.1:c.2439-33C>T, NM_001128849.1:c.2439-33C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
Legend