Full data view for gene MAGEB1

Information The variants shown are described using the NM_002363.4 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.-1872G>A r.(?) p.(=) Unknown - likely benign g.30260296G>A g.30242179G>A MAGEB4(NM_002367.3):c.44G>A (p.R15H) - MAGEB3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1761G>A r.(?) p.(=) Unknown - VUS g.30260407G>A g.30242290G>A MAGEB4(NM_002367.3):c.155G>A (p.S52N) - MAGEB3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1710C>T r.(?) p.(=) Unknown - likely benign g.30260458C>T g.30242341C>T MAGEB4(NM_002367.3):c.206C>T (p.T69I) - MAGEB4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1664C>T r.(?) p.(=) Unknown - likely benign g.30260504C>T g.30242387C>T MAGEB4(NM_002367.3):c.252C>T (p.D84=) - MAGEB3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1447C>T r.(?) p.(=) Unknown - likely benign g.30260721C>T g.30242604C>T MAGEB4(NM_002367.3):c.469C>T (p.R157C) - MAGEB4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-927T>C r.(?) p.(=) Unknown - likely benign g.30261241T>C g.30243124T>C MAGEB4(NM_002367.3):c.989T>C (p.(Met330Thr)) - MAGEB4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-143-294G>C r.(=) p.(=) Maternal (inferred) - VUS g.30265213G>C g.30247096G>C - - MAGEB1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-143-294G>C r.(=) p.(=) Maternal (inferred) - VUS g.30265213G>C g.30247096G>C - - MAGEB1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-95G>C r.(?) p.(=) Maternal (inferred) - VUS g.30265555G>C g.30247438G>C - - MAGEB1_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-95G>C r.(?) p.(=) Maternal (inferred) - VUS g.30265555G>C g.30247438G>C - - MAGEB1_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-60-235C>T r.(=) p.(=) Maternal (inferred) - VUS g.30268316C>T g.30250199C>T - - MAGEB1_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-60-235C>T r.(=) p.(=) Maternal (inferred) - VUS g.30268316C>T g.30250199C>T - - MAGEB1_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.35G>A r.(?) p.(Arg12His) Unknown - likely benign g.30268645G>A g.30250528G>A MAGEB1(NM_002363.4):c.35G>A (p.(Arg12His)) - MAGEB1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.329G>T r.(?) p.(Trp110Leu) Unknown - likely benign g.30268939G>T g.30250822G>T MAGEB1(NM_002363.4):c.329G>T (p.W110L) - MAGEB1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.560G>T r.(?) p.(Gly187Val) Unknown - VUS g.30269170G>T g.30251053G>T MAGEB1(NM_002363.4):c.560G>T (p.G187V) - MAGEB4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.589A>G r.(?) p.(Arg197Gly) Parent #1 - VUS g.30269199A>G g.30251082A>G R197G - MAGEB1_000014 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
?/. 4 c.799C>T r.(?) p.(Arg267Cys) Parent #1 - VUS g.30269409C>T g.30251292C>T R267C - MAGEB1_000015 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.800G>A r.(?) p.(Arg267His) Unknown - VUS g.30269410G>A g.30251293G>A MAGEB1(NM_002363.4):c.800G>A (p.(Arg267His)) - MAGEB1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1003C>T r.(?) p.(Arg335Cys) Unknown - likely benign g.30269613C>T g.30251496C>T MAGEB1(NM_002363.4):c.1003C>T (p.(Arg335Cys)) - MAGEB4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*233T>A r.(=) p.(=) Maternal (inferred) - VUS g.30269887T>A g.30251770T>A - - MAGEB1_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*233T>A r.(=) p.(=) Maternal (inferred) - VUS g.30269887T>A g.30251770T>A - - MAGEB1_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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