Full data view for gene ARID1A

Information The variants shown are described using the NM_006015.4 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA 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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_20_ c.-373_*1354{2} r.? p.? Unknown - pathogenic g.(?_25962297)_(27132774_?)dup - - - ARID1A_000221 - van der Sluijs 2023, submitted - - Germline/De novo (untested) - - - - - DNA arrayCGH - - NDD Pat1.1A van der Sluijs 2023, submitted - F - - - - - - - 1 Eline van der Sluijs
+/. _1_20_ c.-373_*1354{2} r.? p.? Unknown - pathogenic g.(?_26280892)_(27509269_?)dup - - - ARID1A_000221 - van der Sluijs 2023, submitted - - De novo - - - - - DNA arrayCGH - - NDD Pat2.1A van der Sluijs 2023, submitted - M - - - - - - - 1 Eline van der Sluijs
+/. _1_20_ c.-373_*1354{2} r.? p.? Unknown - pathogenic g.(?_26717815)_(27685374_?)dup - arr[GRCh37] 1p36.11(26717815_27685374)x3 - ARID1A_000221 duplication includes ARID1A van der Sluijs 2023, submitted - - De novo - - - - - DNA arrayCGH - - NDD Pat4.1A van der Sluijs 2023, submitted - F - - - - - - - 1 Eline van der Sluijs
+/. _1_20_ c.-373_*1354{2} r.? p.? Unknown - pathogenic g.(?_26752871)_(27480107_?)dup - - - ARID1A_000221 - van der Sluijs 2023, submitted - - De novo - - - - - DNA arrayCGH - - NDD Pat5.1A van der Sluijs 2023, submitted - M - - - - - - - 1 Eline van der Sluijs
+/. _1_20_ c.-373_*1354{2} r.? p.? Unknown - pathogenic g.(?_26796023)_(27123236_?)dup - - - ARID1A_000221 - van der Sluijs 2023, submitted - - De novo - - - - - DNA arrayCGH - - NDD Pat6.1A van der Sluijs 2023, submitted - F - - - - - - - 1 Eline van der Sluijs
+/. _1_20_ c.-373_*1354{2} r.? p.? Unknown - pathogenic g.(?_26825467)_(27225097_?)dup - - - ARID1A_000221 variant not in mother van der Sluijs 2023, submitted - - Germline/De novo (untested) - - - - - DNA arrayCGH - - NDD Pat7.1A van der Sluijs 2023, submitted - M - - - - - - - 1 Eline van der Sluijs
+/. _1_20_ c.-373_*1354{2} r.? p.? Unknown - pathogenic g.(?_26833555)_(27133562_?)dup - - - ARID1A_000221 - van der Sluijs 2023, submitted - - De novo - - - - - DNA arrayCGH - - NDD Pat8.1A van der Sluijs 2023, submitted - M - - - - - - - 1 Eline van der Sluijs
+/. _1_20_ c.-373_*1354{2} r.? p.? Unknown - pathogenic g.(?_26886639)_(27193036_?)dup - - - ARID1A_000221 - van der Sluijs 2023, submitted - - De novo - - - - - DNA arrayCGH - - NDD Pat9.1A van der Sluijs 2023, submitted - M - - - - - - - 1 Eline van der Sluijs
+/. _1_20_ c.-373_*1354{2} r.? p.? Unknown - pathogenic g.(?_26917016)_(27169244_?)dup - - - ARID1A_000221 - van der Sluijs 2023, submitted - - De novo - - - - - DNA arrayCGH - - NDD Pat10.1A van der Sluijs 2023, submitted - F - - - - - - - 1 Eline van der Sluijs
+/. _1_20_ c.-373_*1354{2} r.? p.? Unknown - pathogenic g.(?_26978354)_(27256595_?)dup - - - ARID1A_000221 - van der Sluijs 2023, submitted - - De novo - - - - - DNA arrayCGH - - NDD Pat11.1A van der Sluijs 2023, submitted - M - - - - - - - 1 Eline van der Sluijs
+/. _1_20_ c.-373_*1354{2} r.? p.? Unknown - pathogenic g.(26941216_26986973)_(27382884_27436077)dup - - - ARID1A_000221 - van der Sluijs 2023, submitted - - De novo - - - - - DNA arrayCGH - - NDD Pat12.1A van der Sluijs 2023, submitted - F - - - - - - - 1 Eline van der Sluijs
+/. _1_20_ c.-373_*1354{2} r.? p.? Unknown - pathogenic g.(?_27001256)_(27190935_?)dup - - - ARID1A_000221 - van der Sluijs 2023, submitted - - De novo - - - - - DNA arrayCGH - - NDD Pat13.1A van der Sluijs 2023, submitted - F - - - - - - - 1 Eline van der Sluijs
+/. _1_20_ c.-373_*1354{2} r.? p.? Unknown - pathogenic g.(?_27001498)_(27110331_?)dup - - - ARID1A_000221 - van der Sluijs 2023, submitted - - De novo - - - - - DNA arrayCGH - - NDD Pat14.1A van der Sluijs 2023, submitted - M - - - - - - - 1 Eline van der Sluijs
+/. _1_20_ c.-373_*1354{2} r.? p.? Unknown - pathogenic g.(?_27001055)_(27151422_?)dup - - - ARID1A_000221 - van der Sluijs 2023, submitted - - Germline/De novo (untested) - - - - - DNA arrayCGH - - NDD PatV1.1A van der Sluijs 2023, submitted - M - - - - - - - 1 Eline van der Sluijs
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