Full data view for gene AP1S2

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     

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_4i c.(-517833_-480808)_(426+4505_427-7985)del r.0? p.0? Maternal (confirmed) - 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 - DNA arrayCGH - - MRX;IDX - PubMed: Ballarati 2012 2-generation family, unaffected carrier mother and affected son M no Italy - - 0 - - 1 Johan den Dunnen
+/. - c.54G>A r.(?) p.(Trp18Ter) Both (homozygous) ACMG pathogenic (recessive) g.15870594C>T g.15852471C>T - - AP1S2_000021 - PubMed: Hu 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - ID M092 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes Iran Persia - 0 - - 3 Johan den Dunnen
./. - c.74_75del r.(?) p.(Lys25Argfs*19) Maternal (confirmed) - pathogenic g.15870574_15870575del g.15852451_15852452del AP1S2 K25Rfs*19 - AP1S2_000019 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamD178 PubMed: Hu 2016 family, 3 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - 3 Johan den Dunnen
+/. 2 c.106C>T r.(?) p.(Gln36*) Maternal (confirmed) - 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 - DNA SEQ - - MRX;IDX - PubMed: Tarpey 2004, Journal: Tarpey 2004 5-generation family, 10 affected males, 8 unaffected female carriers M no United States - - 0 - - 10 Johan den Dunnen
?/. - c.112G>A r.(?) p.(Val38Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.126A>T r.(?) p.(Lys42Asn) Unknown - VUS g.15870522T>A - AP1S2(NM_001369008.1):c.126A>T (p.K42N) - AP1S2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.154C>T r.(?) p.(Arg52*) Maternal (confirmed) - 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 - DNA SEQ ? - MRX;IDX - PubMed: Tarpey 2004, Journal: Tarpey 2004 4-generation family, 5 affected males, 4 unaffected carrier females M no Australia - - 0 - - 5 Johan den Dunnen
+/. 2 c.154C>T r.(?) p.(Arg52*) Maternal (confirmed) - pathogenic g.15870494G>A g.15852371G>A - - AP1S2_000002 - PubMed: Borck 2008 - - Germline yes - - 0 - DNA SEQ - - MRX;IDX - PubMed: Borck 2008 3-generation family, 3 affected males, 3 unaffected carrier females M no France - - 0 - - 3 Johan den Dunnen
+/. - c.154C>T r.(?) p.(Arg52Ter) Unknown - pathogenic g.15870494G>A g.15852371G>A - - AP1S2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.154C>T r.(?) p.(Arg52*) Maternal (confirmed) - pathogenic g.15870494G>A g.15852371G>A AP1S2 R52* - AP1S2_000002 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamN141 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - 2 Johan den Dunnen
?/. - c.179+342T>G r.(=) p.(=) Maternal (inferred) - VUS g.15870127A>C g.15852004A>C - - AP1S2_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. 2i c.180-5_180-4del r.spl p.? Maternal (confirmed) - pathogenic g.15864138_15864139del g.15846015_15846016del c.180-5del4 - AP1S2_000011 - PubMed: Tarpey 2004, Journal: Tarpey 2004, OMIM:var0003 - rs587776738 Germline yes - - 0 - DNA SEQ - - MRX;IDX - PubMed: Tarpey 2004, Journal: Tarpey 2004 3-generation family, 4 affected males, 3 unaffected carrier females M no - - - 0 - - 4 Johan den Dunnen
+/. 3 c.226G>T r.(?) p.(Glu76*) Maternal (confirmed) - pathogenic g.15864088C>A g.15845965C>A - - AP1S2_000013 - PubMed: Saillour 2007, Journal: Saillour 2007, OMIM:var0005 - rs137852213 Germline yes - - 0 - DNA DHPLC, SEQ - - MRX;IDX - PubMed: Saillour 2007, Journal: Saillour 2007 3-generation family, 6 affected males, unaffected carrier females M no United Kingdom (Great Britain) Scottish - 0 - - 6 Johan den Dunnen
-/. - c.288T>C r.(?) p.(Ser96=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 3i c.288+5G>A r.180_288del p.Tyr61fs Maternal (confirmed) - pathogenic g.15864021C>T g.15845898C>T - - AP1S2_000012 - PubMed: Saillour 2007, Journal: Saillour 2007, OMIM:var0004 - rs587776739 Germline yes - - 0 - DNA, RNA DHPLC, RT-PCR, SEQ - - MRX;IDX - PubMed: Saillour 2007, Journal: Saillour 2007 5-generation family, 8 affected males, 6 unaffected carrier females M no France - - 0 - - 8 Johan den Dunnen
?/. - c.288+73T>A r.(=) p.(=) Maternal (inferred) - VUS g.15863953A>T g.15845830A>T - - AP1S2_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.288+73T>A r.(=) p.(=) Maternal (inferred) - VUS g.15863953A>T g.15845830A>T - - AP1S2_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.289-8C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 3i c.289-1G>C r.289_301del p.Val97Ilefs*55 Maternal (confirmed) - pathogenic g.15863640C>G g.15845517C>G - - AP1S2_000014 - PubMed: Borck 2008 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ - - MRX;IDX - PubMed: Borck 2008 2-generation family, affected male, unaffected carrier mother M no France - - 0 - - 1 Johan den Dunnen
+?/? 4 c.367C>T r.(?) p.(Gln123*) Maternal (confirmed) - likely pathogenic g.15863561G>A g.15845438G>A - - AP1S2_000003 - - - - Germline ? - - 0 - DNA SEQ ? - MRX;IDX - - - - - - - - 0 - - 1 Andreas Tzschach
+?/. 4 c.426+1G>T r.spl? p.(Val97_Glu142del) Unknown - likely pathogenic g.15863501C>A g.15845378C>A - - AP1S2_000010 - PubMed: Cacciagli 2014, OMIM:var0006 - rs587777542 Germline yes - - 0 - DNA SEQ - - MRX;IDX - PubMed: Cacciagli 2014 5-generation family, 4 affecteds, 3 unaffected carrier females M no United States Dutch - 0 - - 4 Laurent Villard
?/. - c.426+226A>G r.(?) p.(=) Maternal (inferred) - VUS g.15863276T>C g.15845153T>C - - AP1S2_000006 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.426+226A>G r.(?) p.(=) Maternal (inferred) - VUS g.15863276T>C g.15845153T>C - - AP1S2_000006 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*552del r.(=) p.(=) Unknown - VUS g.15844898del g.15826775del - - AP1S2_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.*4178G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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