All variants in the AP1S2 gene

Information The variants shown are described using the NM_003916.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. _1_4i c.(-517833_-480808)_(426+4505_427-7985)del r.0? p.0? - pathogenic g.(15853480_15858997)_(16353618_16390643)del - hg18 (15763401_15768918)_(16263539_16300564)del - AP1S2_000015 deletion incl. entire GRPR gene PubMed: Ballarati 2012 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.54G>A r.(?) p.(Trp18Ter) ACMG pathogenic (recessive) g.15870594C>T g.15852471C>T - - AP1S2_000021 - PubMed: Hu 2019 - - Germline - - - 0 - Johan den Dunnen
./. - c.74_75del r.(?) p.(Lys25Argfs*19) - pathogenic g.15870574_15870575del g.15852451_15852452del AP1S2 K25Rfs*19 - AP1S2_000019 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
+/. 2 c.106C>T r.(?) p.(Gln36*) - pathogenic g.15870542G>A g.15852419G>A - - AP1S2_000001 - PubMed: Tarpey 2004, Journal: Tarpey 2004, PubMed: Tarpey 2009, OMIM:var0001 - rs104894739 Germline yes 1/208 families - 0 - Johan den Dunnen
?/. - c.112G>A r.(?) p.(Val38Ile) - VUS g.15870536C>T g.15852413C>T AP1S2(NM_003916.3):c.112G>A (p.(Val38Ile)) - AP1S2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.126A>T r.(?) p.(Lys42Asn) - VUS g.15870522T>A - AP1S2(NM_001369008.1):c.126A>T (p.K42N) - AP1S2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 2 c.154C>T r.(?) p.(Arg52*) - pathogenic g.15870494G>A g.15852371G>A - - AP1S2_000002 - PubMed: Tarpey 2004, Journal: Tarpey 2004, PubMed: Tarpey 2009, OMIM:var0002 - rs104894735 Germline yes 1/208 families - 0 - Johan den Dunnen
+/. 2 c.154C>T r.(?) p.(Arg52*) - pathogenic g.15870494G>A g.15852371G>A - - AP1S2_000002 - PubMed: Borck 2008 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.154C>T r.(?) p.(Arg52Ter) - pathogenic g.15870494G>A g.15852371G>A - - AP1S2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
./. - c.154C>T r.(?) p.(Arg52*) - pathogenic g.15870494G>A g.15852371G>A AP1S2 R52* - AP1S2_000002 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
?/. - c.179+342T>G r.(=) p.(=) - VUS g.15870127A>C g.15852004A>C - - AP1S2_000008 - - - - Germline - - - - - Yu Sun
+/. 2i c.180-5_180-4del r.spl p.? - pathogenic g.15864138_15864139del g.15846015_15846016del c.180-5del4 - AP1S2_000011 - PubMed: Tarpey 2004, Journal: Tarpey 2004, OMIM:var0003 - rs587776738 Germline yes - - 0 - Johan den Dunnen
+/. 3 c.226G>T r.(?) p.(Glu76*) - pathogenic g.15864088C>A g.15845965C>A - - AP1S2_000013 - PubMed: Saillour 2007, Journal: Saillour 2007, OMIM:var0005 - rs137852213 Germline yes - - 0 - Johan den Dunnen
-/. - c.288T>C r.(?) p.(Ser96=) - benign g.15864026A>G g.15845903A>G AP1S2(NM_001272071.1):c.288T>C (p.S96=) - AP1S2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 3i c.288+5G>A r.180_288del p.Tyr61fs - pathogenic g.15864021C>T g.15845898C>T - - AP1S2_000012 - PubMed: Saillour 2007, Journal: Saillour 2007, OMIM:var0004 - rs587776739 Germline yes - - 0 - Johan den Dunnen
?/. - c.288+73T>A r.(=) p.(=) - VUS g.15863953A>T g.15845830A>T - - AP1S2_000005 - - - - Germline - - - - - Yu Sun
?/. - c.288+73T>A r.(=) p.(=) - VUS g.15863953A>T g.15845830A>T - - AP1S2_000005 - - - - Germline - - - - - Yu Sun
-?/. - c.289-8C>T r.(=) p.(=) - likely benign g.15863647G>A g.15845524G>A AP1S2(NM_001272071.1):c.289-8C>T - AP1S2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 3i c.289-1G>C r.289_301del p.Val97Ilefs*55 - pathogenic g.15863640C>G g.15845517C>G - - AP1S2_000014 - PubMed: Borck 2008 - - Germline yes - - 0 - Johan den Dunnen
+?/? 4 c.367C>T r.(?) p.(Gln123*) - likely pathogenic g.15863561G>A g.15845438G>A - - AP1S2_000003 - - - - Germline ? - - 0 - Andreas Tzschach
+?/. 4 c.426+1G>T r.spl? p.(Val97_Glu142del) - likely pathogenic g.15863501C>A g.15845378C>A - - AP1S2_000010 - PubMed: Cacciagli 2014, OMIM:var0006 - rs587777542 Germline yes - - 0 - Laurent Villard
?/. - c.426+226A>G r.(?) p.(=) - VUS g.15863276T>C g.15845153T>C - - AP1S2_000006 - - - - Germline - - - 0 - Yu Sun
?/. - c.426+226A>G r.(?) p.(=) - VUS g.15863276T>C g.15845153T>C - - AP1S2_000006 - - - - Germline - - - 0 - Yu Sun
?/. - c.*552del r.(=) p.(=) - VUS g.15844898del g.15826775del - - AP1S2_000009 - - - - Germline - - - - - Yu Sun
-?/. - c.*4178G>A r.(=) p.(=) - likely benign g.15841270C>T g.15823147C>T ZRSR2(NM_005089.3):c.1354C>T (p.R452C) - ZRSR2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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