All variants in the MAGEA11 gene

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     

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.-139+237G>A r.(=) p.(=) - VUS g.148770191G>A g.149688525G>A - - MAGEA11_000001 - - - - Germline - - - - - Yu Sun
?/. - c.-138-175T>C r.(=) p.(=) - VUS g.148770323T>C g.149688663T>C - - MAGEA11_000002 - - - - Germline - - - - - Yu Sun
?/. - c.-138-175T>C r.(=) p.(=) - VUS g.148770323T>C g.149688663T>C - - MAGEA11_000002 - - - - Germline - - - - - Yu Sun
?/. - c.-138-169T>C r.(=) p.(=) - VUS g.148770329T>C g.149688669T>C - - MAGEA11_000005 - - - - Germline - - - - - Yu Sun
?/. - c.10-1340_10-1328del r.(=) p.(=) - 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 - VKGL-NL_Leiden
-?/. - c.54A>G r.(?) p.(Arg18=) - likely benign g.148796185A>G - MAGEA11(NM_005366.5):c.141A>G (p.R47=) - MAGEA11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.327A>C r.(?) p.(Ala109=) - likely benign g.148797560A>C - MAGEA11(NM_005366.5):c.414A>C (p.A138=) - MAGEA11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.555T>G r.(?) p.(Pro185=) - likely benign g.148797788T>G - MAGEA11(NM_005366.5):c.642T>G (p.P214=) - MAGEA11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.610T>C r.(?) p.(Leu204=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.666T>A r.(?) p.(Ser222Arg) - 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 - - - - - VKGL-NL_Leiden
?/. - c.675A>C r.(?) p.(Lys225Asn) - 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 - - - - - VKGL-NL_Rotterdam
?/. 5 c.747C>T r.(?) p.(=) - 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 - Lucy Raymond
-?/. - c.1161C>T r.(?) p.(Ser387=) - 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 - VKGL-NL_Rotterdam
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