Full data view for gene MAGEA11

Information The variants shown are described using the NM_001011544.1 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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.-139+237G>A r.(=) p.(=) Maternal (inferred) - VUS g.148770191G>A g.149688525G>A - - MAGEA11_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-138-175T>C r.(=) p.(=) Maternal (inferred) - VUS g.148770323T>C g.149688663T>C - - MAGEA11_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-138-175T>C r.(=) p.(=) Unknown - VUS g.148770323T>C g.149688663T>C - - MAGEA11_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-138-169T>C r.(=) p.(=) Unknown - VUS g.148770329T>C g.149688669T>C - - MAGEA11_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.10-1340_10-1328del r.(=) p.(=) Unknown - VUS g.148794801_148794813del g.149713141_149713153del MAGEA11(NM_005366.4):c.-17-4_-9del (p.(=)) - MAGEA11_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.54A>G r.(?) p.(Arg18=) Unknown - likely benign g.148796185A>G - MAGEA11(NM_005366.5):c.141A>G (p.R47=) - MAGEA11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.327A>C r.(?) p.(Ala109=) Unknown - likely benign g.148797560A>C - MAGEA11(NM_005366.5):c.414A>C (p.A138=) - MAGEA11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.555T>G r.(?) p.(Pro185=) Unknown - likely benign g.148797788T>G - MAGEA11(NM_005366.5):c.642T>G (p.P214=) - MAGEA11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.610T>C r.(?) p.(Leu204=) Unknown - likely benign g.148797843T>C g.149716183T>C MAGEA11(NM_005366.5):c.697T>C (p.L233=) - MAGEA11_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.666T>A r.(?) p.(Ser222Arg) Unknown - likely benign g.148797899T>A g.149716239T>A MAGEA11(NM_001011544.1):c.666T>A (p.(Ser222Arg)) - MAGEA11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.675A>C r.(?) p.(Lys225Asn) Unknown - VUS g.148797908A>C g.149716248A>C MAGEA11(NM_001011544.1):c.675A>C (p.K225N) - MAGEA11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.747C>T r.(?) p.(=) Parent #1 - VUS g.148797980C>T - L249L - MAGEA11_000009 recurrent, found 99 times; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. 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
-?/. - c.1161C>T r.(?) p.(Ser387=) Unknown - likely benign g.148798394C>T g.149716734C>T MAGEA11(NM_001011544.1):c.1161C>T (p.S387=) - MAGEA11_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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