Full data view for gene MAGED1

Information The variants shown are described using the NM_001005332.1 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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     
?/. - c.? r.(?) p.(Ala738Val) Unknown - VUS g.? - - - USP9X_000005 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K14 PubMed: Heidet 2017 affected patient and 1st degree relative - - France - - - - - 2 Johan den Dunnen
-?/. - c.42C>T r.(?) p.(Phe14=) Unknown - likely benign g.51637442C>T - MAGED1(NM_001005333.1):c.42C>T (p.F14=) - MAGED1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.45+260del r.(=) p.(=) Unknown - VUS g.51637705del g.51894609del - - MAGED1_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.46-303G>A r.(=) p.(=) Unknown - likely benign g.51637846G>A g.51894750G>A MAGED1(NM_001005332.1):c.46-303G>A (p.(=)) - MAGED1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.46-286C>T r.(=) p.(=) Unknown - likely benign g.51637863C>T - MAGED1(NM_001005333.1):c.186C>T (p.C62=) - MAGED1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.166C>T r.(?) p.(Pro56Ser) Unknown - VUS g.51638269C>T g.51895173C>T MAGED1(NM_001005333.1):c.334C>T (p.P112S) - MAGED1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.307G>A r.(?) p.(Val103Met) Unknown - likely benign g.51638410G>A - MAGED1(NM_001005333.1):c.475G>A (p.V159M) - MAGED1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.346A>C r.(?) p.(Asn116His) Unknown - likely benign g.51638449A>C g.51895353A>C MAGED1(NM_001005332.1):c.346A>C (p.(Asn116His)) - MAGED1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.494A>T r.(?) p.(Gln165Leu) Unknown - VUS g.51638597A>T g.51895501A>T MAGED1(NM_001005332.1):c.494A>T (p.(Gln165Leu)) - MAGED1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.546G>A r.(?) p.(Lys182=) Unknown - likely benign g.51638649G>A - MAGED1(NM_001005333.1):c.714G>A (p.K238=) - MAGED1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.723G>A r.(?) p.(Arg241=) Unknown - likely benign g.51638826G>A g.51895730G>A MAGED1(NM_001005333.1):c.891G>A (p.R297=) - MAGED1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.913C>T r.(?) p.(Pro305Ser) Parent #1 - VUS g.51639664C>T g.51896568C>T - - MAGED1_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1062G>A r.(?) p.(Val354=) Unknown - likely benign g.51639813G>A - MAGED1(NM_001005333.1):c.1230G>A (p.V410=) - MAGED1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1361C>T r.(?) p.(Ser454Leu) Unknown - benign g.51640112C>T g.51897016C>T MAGED1(NM_001005333.1):c.1529C>T (p.S510L) - MAGED1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1845-260C>G r.(=) p.(=) Maternal (inferred) - VUS g.51643018C>G g.51899922= - - MAGED1_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1845-260C>G r.(=) p.(=) Maternal (inferred) - VUS g.51643018C>G g.51899922= - - MAGED1_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1986G>A r.(?) p.(Trp662*) Unknown - VUS g.51644675G>A - - - MAGED1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2029C>T r.(=) p.(=) Parent #1 - likely benign g.51644718C>T g.51901622C>T L733L - MAGED1_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.2059C>A r.(?) p.(=) Maternal (inferred) - VUS g.51644748C>A g.51901652C>A - - MAGED1_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2059C>A r.(?) p.(=) Maternal (inferred) - VUS g.51644748C>A g.51901652C>A - - MAGED1_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.2059C>A r.(=) p.(=) Parent #1 - likely benign g.51644748C>A g.51901652C>A R743R - MAGED1_000003 recurrent, found 34 times PubMed: Tarpey 2009 - - Germline - 34/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 34 Lucy Raymond
-?/. - c.*8+3A>G r.spl? p.? Unknown - likely benign g.51645037A>G - MAGED1(NM_001005332.1):c.*8+3A>G (p.(=)) - MAGED1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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