Full data view for gene ARID2

Information The variants shown are described using the NM_152641.2 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

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Remarks     

Disease     

ID_report     

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Remarks     

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Panel size     

Owner     
?/. 5 c.156del - r.(?) p.(Arg53Glufs*5) Parent #1 g.46123890delC - - - ARID2_000010 - PubMed: Bramswig 2017 - - De novo - - - 0 - DNA SEQ - - CSS Ind2 PubMed: Bramswig 2017 - - - - - - 0 - - 1 Julia Lopez
+?/. - c.820C>T likely pathogenic r.(?) p.(Arg274*) Unknown g.46230571C>T - ARID2:NM_152641.2:c.820C>T (Arg274*) - ARID2_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 6 c.1028T>A - r.(?) p.(Leu343*) Parent #1 g.46231108T>A - - - ARID2_000011 Refseq reported:hg19 PubMed: Shang L 2015 - - Unknown - - - 0 - DNA SEQ - - ID 2 PubMed: Shang L 2015 - F - - - - 0 - - 1 Julia Lopez
?/. - c.1324A>G VUS r.(?) p.(Ser442Gly) Unknown g.46231484A>G - ARID2:NM_152641.3(ARID2):c.1324A>G (Ser442Gly) - ARID2_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1995_1996insAAAT likely pathogenic r.(?) p.(Gln666Lysfs*42) Unknown g.46243901_46243902insAAAT - ARID2:c.1997_2000dupAAAT (M667Ifs*41) - ARID2_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2455C>T pathogenic r.(?) p.(Gln819*) Unknown g.46244361C>T - ARID2:c.2455C>T (Q819*) - ARID2_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 10 c.2536delG - r.(?) p.(Ala846Hisfs*6) Parent #1 g.46244442delG - p.(Val846Leufs*3) - ARID2_000012 Refseq reported:hg19 PubMed: Shang L 2015 - - De novo - - - 0 - DNA SEQ - - ID 1 PubMed: Shang L 2015 - F - - - - 0 - - 1 Julia Lopez
?/. 12 c.3411_3412del - r.(?) p.(Gly1139Serfs*20) Parent #1 g.46245317_46245318delAG - - - ARID2_000013 - PubMed: Bramswig 2017 - - De novo - - - 0 - DNA SEQ - - CSS Ind1 PubMed: Bramswig 2017 - - - - - - 0 - - 1 Julia Lopez
+/. - c.3535_3536del pathogenic r.(?) p.(Asn1179Tyrfs*61) Unknown g.46245441_46245442del - ARID2:NM_152641.2:c.3535_3536de (Asn1179fs) - ARID2_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3814C>T VUS r.(?) p.(Arg1272*) Unknown g.46245720C>T - ARID2:NM_152641.3:c.3814C>T (Arg1272*) - ARID2_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 12 c.4318C>T - r.(?) p.(Gln1440*) Parent #1 g.46246224C>T - - - ARID2_000014 Refseq reported:hg19 PubMed: Shang L 2015 - - De novo - - - 0 - DNA SEQ - - ID 4 PubMed: Shang L 2015 - F - - - - 0 - - 1 Julia Lopez
?/. 12 c.4441delC - r.(?) p.(His1481Ilefs*4) Parent #1 g.46246347delC - - - ARID2_000015 Refseq reported:hg19 PubMed: Shang L 2015 - - De novo - - - 0 - DNA SEQ - - ID 3 PubMed: Shang L 2015 - M - - - - 0 - - 1 Julia Lopez
?/. - c.4585G>A VUS r.(?) p.(Gly1529Arg) Unknown g.46246491G>A - ARID2:c.4585G>A (G1529R) - ARID2_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.5192A>T - r.(?) p.(Lys1731Met) Unknown g.46287247A>T g.45893464A>T NM_152641.3(ARID2):c.5192A>T p.(Lys1731Met) - ARID2_000002 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - DNA SEQ-NG - - cancer, gastric Vogelaar-759A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - 0 - - 1 Marjolijn JL Ligtenberg
?/. - c.5363+2444G>A - - p.(=) Unknown g.46289948G>A g.45896165G>A - - ARID2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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