Unique variants in the MAGEA3 gene

Information The variants shown are described using the NM_005362.3 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Reported     

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 - c.168C>T r.(?) p.(Ala56=) - likely benign g.151935999G>A - MAGEA3(NM_005362.3):c.168C>T (p.A56=) - MAGEA3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.266A>G r.(?) p.(Asn89Ser) - likely benign g.151935901T>C - MAGEA3(NM_005362.3):c.266A>G (p.N89S) - MAGEA3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.281G>A r.(?) p.(Gly94Glu) - likely benign g.151935886C>T g.152701113G>A MAGEA3(NM_005362.3):c.281G>A (p.G94E) - MAGEA3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.343G>A r.(?) p.(Glu115Lys) - likely benign g.151935824C>T g.152701175G>A MAGEA3(NM_005362.3):c.343G>A (p.E115K) - MAGEA3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.421G>A r.(?) p.(Gly141Arg) - likely benign g.151935746C>T g.152701253G>A MAGEA3(NM_005362.3):c.421G>A (p.G141R, p.(Gly141Arg)) - MAGEA3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.466A>G r.(?) p.(Ser156Gly) - likely benign g.151935701T>C g.152701298A>G MAGEA3(NM_005362.3):c.466A>G (p.S156G) - MAGEA3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.467G>A r.(?) p.(Ser156Asn) - likely benign g.151935700C>T g.152701299G>A MAGEA3(NM_005362.3):c.467G>A (p.S156N) - MAGEA3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.501G>A r.(?) p.(Met167Ile) - likely benign g.151935666C>T g.152701333G>A MAGEA3(NM_005362.3):c.501G>A (p.M167I) - MAGEA3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.523T>G r.(?) p.(Leu175Val) - likely benign g.151935644A>C g.152701355T>G MAGEA3(NM_005362.3):c.523T>G (p.(Leu175Val)) - MAGEA3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.539C>T r.(?) p.(Thr180Ile) - likely benign g.151935628G>A g.152701371C>T MAGEA3(NM_005362.3):c.539C>T (p.T180I) - MAGEA3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.571G>T r.(?) p.(Gly191Cys) - likely benign g.151935596C>A g.152701403G>T MAGEA3(NM_005362.3):c.571G>T (p.(Gly191Cys)) - MAGEA3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.595G>A r.(?) p.(Ala199Thr) - likely benign g.151935572C>T g.152701427G>A MAGEA3(NM_005362.3):c.595G>A (p.A199T) - MAGEA3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.601C>T r.(?) p.(Leu201Phe) - VUS g.151935566G>A - - - MAGEA3_000021 - PubMed: Oud 2020 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.786C>T r.(?) p.(Pro262=) - likely benign g.151935381G>A - MAGEA3(NM_005362.3):c.786C>T (p.P262=) - MAGEA3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.835G>A r.(?) p.(Val279Ile) - VUS g.151935332C>T g.152701667G>A - - MAGEA3_000008 recurrent, found 35 times PubMed: Tarpey 2009 - - Germline - 35/208 cases - - - Lucy Raymond
-?/., ?/. 2 - c.908C>T r.(?) p.(Pro303Leu) - likely benign, VUS g.151935259G>A g.152701740C>T MAGEA3(NM_005362.3):c.908C>T (p.P303L, p.(Pro303Leu)) - MAGEA3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/., ?/. 2 - c.923T>C r.(?) p.(Val308Ala) - likely benign, VUS g.151935244A>G g.152701755T>C MAGEA3(NM_005362.3):c.923T>C (p.(Val308Ala)) - MAGEA3_000002 recurrent, found 38 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 38/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
-?/., ?/. 2 - c.927G>T r.(?) p.(Leu309Phe) - likely benign, VUS g.151935240C>A g.152701759G>T MAGEA3(NM_005362.3):c.927G>T (p.(Leu309Phe)) - MAGEA3_000001 recurrent, found 2 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 2/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
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