All variants in the MAGEE2 gene

Information The variants shown are described using the NM_138703.4 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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     
-?/. - c.90C>T r.(?) p.(Asn30=) - likely benign g.75004797G>A - MAGEE2(NM_138703.4):c.90C>T (p.N30=) - MAGEE2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 c.176C>A r.(?) p.(Ser59Tyr) - VUS g.75004711G>T g.75784876G>T S59Y - MAGEE2_000012 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. 1 c.358G>T r.(?) p.(Glu120*) - VUS g.75004529C>A g.75784694C>A E120* - MAGEE2_000011 recurrent, found 9 times PubMed: Tarpey 2009 - - Germline - 9/208 cases - 0 - Lucy Raymond
?/. 1 c.562C>A r.(?) p.(Leu188Ile) - VUS g.75004325G>T g.75784490G>T L188I - MAGEE2_000010 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.578G>C r.(?) p.(Arg193Pro) - VUS g.75004309C>G g.75784474C>G MAGEE2(NM_138703.4):c.578G>C (p.R193P) - MAGEE2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.721G>C r.(?) p.(Val241Leu) - VUS g.75004166C>G - MAGEE2(NM_138703.4):c.721G>C (p.V241L) - MAGEE2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.843G>A r.(?) p.(Trp281Ter) - VUS g.75004044C>T g.75784209C>T MAGEE2(NM_138703.4):c.843G>A (p.W281*) - MAGEE2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.843G>T r.(?) p.(Trp281Cys) - likely benign g.75004044C>A g.75784209C>A MAGEE2(NM_138703.4):c.843G>T (p.W281C) - MAGEE2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.937_939del r.(?) p.(Asp313del) - VUS g.75003950_75003952del - MAGEE2(NM_138703.4):c.937_939delGAT (p.D313del) - MAGEE2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.999T>A r.(?) p.(His333Gln) - VUS g.75003888A>T g.75784053A>T MAGEE2(NM_138703.4):c.999T>A (p.H333Q, p.(His333Gln)) - MAGEE2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.999T>A r.(?) p.(His333Gln) - likely benign g.75003888A>T g.75784053A>T MAGEE2(NM_138703.4):c.999T>A (p.H333Q, p.(His333Gln)) - MAGEE2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1325G>A r.(?) p.(Arg442His) - VUS g.75003562C>T g.75783727C>T MAGEE2(NM_138703.4):c.1325G>A (p.(Arg442His)) - MAGEE2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1343G>A r.(?) p.(Arg448His) - VUS g.75003544C>T g.75783709C>T MAGEE2(NM_138703.4):c.1343G>A (p.(Arg448His)) - MAGEE2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1373C>G r.(?) p.(Ser458Cys) - VUS g.75003514G>C g.75783679G>C MAGEE2(NM_138703.4):c.1373C>G (p.(Ser458Cys)) - MAGEE2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1406C>T r.(?) p.(Pro469Leu) - VUS g.75003481G>A - MAGEE2(NM_138703.4):c.1406C>T (p.P469L) - MAGEE2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1441T>C r.(?) p.(Leu481=) - likely benign g.75003446A>G g.75783611A>G MAGEE2(NM_138703.4):c.1441T>C (p.L481=) - MAGEE2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1509G>T r.(?) p.(Val503=) - likely benign g.75003378C>A - MAGEE2(NM_138703.4):c.1509G>T (p.V503=) - MAGEE2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1541C>T r.(?) p.(Ala514Val) - VUS g.75003346G>A g.75783511G>A MAGEE2(NM_138703.4):c.1541C>T (p.A514V) - MAGEE2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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