Full data view for gene MAGEA4

Information The variants shown are described using the NM_002362.4 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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.24G>A r.(?) p.(Gln8=) Unknown - likely benign g.151092160G>A - MAGEA4(NM_002362.4):c.24G>A (p.Q8=) - MAGEA4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.46G>A r.(?) p.(Val16Ile) Unknown - likely benign g.151092182G>A g.151923710G>A MAGEA4(NM_001011548.1):c.46G>A (p.(Val16Ile)) - MAGEA4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.84A>G r.(?) p.(=) Parent #1 - likely benign g.151092220A>G g.151923748A>G A28A - MAGEA4_000004 recurrent, found 102 times PubMed: Tarpey 2009 - - Germline - 102/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 102 Lucy Raymond
?/. 3 c.122C>T r.(?) p.(Ser41Phe) Parent #1 - VUS g.151092258C>T g.151923786C>T S41F - MAGEA4_000005 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.128C>G r.(?) p.(Ser43Cys) Unknown - likely benign g.151092264C>G g.151923792C>G MAGEA4(NM_002362.4):c.128C>G (p.S43C) - MAGEA4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.517G>A r.(?) p.(Ala173Thr) Parent #1 - VUS g.151092653G>A g.151924181G>A A173T - MAGEA4_000006 recurrent, found 99 times PubMed: Tarpey 2009 - - Germline - 99/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 99 Lucy Raymond
-?/. 3 c.648C>T r.(?) p.(=) Parent #1 - likely benign g.151092784C>T g.151924312C>T S216S - MAGEA4_000007 recurrent, found 9 times PubMed: Tarpey 2009 - - Germline - 9/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 9 Lucy Raymond
-?/. - c.649G>A r.(?) p.(Ala217Thr) Unknown - likely benign g.151092785G>A g.151924313G>A MAGEA4(NM_002362.4):c.649G>A (p.A217T) - MAGEA4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.799C>T r.(?) p.(Pro267Ser) Unknown - VUS g.151092935C>T g.151924463C>T MAGEA4(NM_001011548.1):c.799C>T (p.(Pro267Ser)) - MAGEA4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.806G>A r.(?) p.(Arg269His) Parent #1 - VUS g.151092942G>A g.151924470G>A R269H - MAGEA4_000008 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.952_953del r.(?) p.(Ter318SerextTer18) Unknown - VUS g.151093088_151093089del - MAGEA4(NM_002362.4):c.952_953delTG (p.*318Sfs*19) - MAGEA4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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