All variants in the MAGEA5 gene

Information The variants shown are described using the NM_021049.4 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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.-17838A>G r.(?) p.(=) - VUS g.151304077T>C g.152135605T>C MAGEA10(NM_001011543.2):c.16A>G (p.K6E) - MAGEA5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-17625G>T r.(?) p.(=) - likely benign g.151303864C>A - MAGEA10(NM_001011543.2):c.229G>T (p.D77Y) - MAGEA5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-17585C>G r.(?) p.(=) - likely benign g.151303824G>C - MAGEA10(NM_001011543.2):c.269C>G (p.A90G) - MAGEA5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-17535G>A r.(?) p.(=) - VUS g.151303774C>T g.152135302C>T MAGEA10(NM_001011543.2):c.319G>A (p.E107K) - MAGEA10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-17504C>A r.(?) p.(=) - likely benign g.151303743G>T g.152135271G>T MAGEA10(NM_001011543.2):c.350C>A (p.(Pro117Gln)) - MAGEA10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-17257C>T r.(?) p.(=) - likely benign g.151303496G>A - MAGEA10(NM_001011543.2):c.597C>T (p.H199=) - MAGEA5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-65-3C>T r.spl? p.? - VUS g.151284080G>A g.152115608G>A MAGEA5(NM_021049.4):c.-65-3C>T (p.(=)) - MAGEA5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.12G>A r.(?) p.(Glu4=) - VUS g.151284001C>T g.152115529C>T E4E - MAGEA5_000012 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.46C>G r.(?) p.(Leu16Val) - VUS g.151283967G>C g.152115495G>C L16V - MAGEA5_000011 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
?/. - c.83T>C r.(?) p.(Val28Ala) - VUS g.151283930A>G g.152115458A>G V28A - MAGEA5_000010 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.141A>T r.(?) p.(Pro47=) - VUS g.151283872T>A g.152115400T>A P47P - MAGEA5_000009 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.156G>A r.(?) p.(Glu52=) - VUS g.151283857C>T g.152115385C>T E52E - MAGEA5_000008 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - 0 - Lucy Raymond
?/. - c.170G>A r.(?) p.(Gly57Glu) - VUS g.151283843C>T g.152115371C>T G57E - MAGEA5_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.175C>G r.(?) p.(Pro59Ala) - VUS g.151283838G>C g.152115366G>C P59A - MAGEA5_000006 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.185T>C r.(?) p.(Leu62Pro) - VUS g.151283828A>G g.152115356A>G L62P - MAGEA5_000005 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.187A>C r.(?) p.(Lys63Gln) - VUS g.151283826T>G g.152115354T>G K63Q - MAGEA5_000004 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
?/. - c.207C>T r.(?) p.(Ser69=) - VUS g.151283806G>A g.152115334G>A S69S - MAGEA5_000003 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
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