Individual #00047891

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases CRC
Owner name Sian Jones


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000048017 DNA SEQ - - ARID1A 2 Sian Jones



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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.27059211del g.26732720del - - ARID1A_000012 - - - - Somatic - - - 0 - Sian Jones ARID1A - - - - - 4 NM_006015.4:c.1848del - - r.(?) p.(Ser617Glnfs*2) - - - - - - - - - - - - - - - - - - -
1 Unknown ?/? g.27093013_27093015del g.26766522_26766524del 2944_2946delAAC - ARID1A_000013 - - - - Somatic - - - 0 - Sian Jones ARID1A - - - - - 10 NM_006015.4:c.2944_2946del - - r.(?) p.(Asn983del) - - - - - - - - - - - - - - - - - - -
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