All variants in the MAGEA8 gene

Information The variants shown are described using the NM_001166400.1 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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.-125-3C>T r.spl? p.? - likely benign g.149012844C>T g.149884070C>T MAGEA8(NM_001166400.1):c.-125-3C>T (p.(=)) - MAGEA8-AS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.203C>T r.(?) p.(Ala68Val) - likely benign g.149013249C>T g.149884475C>T MAGEA8(NM_001166400.1):c.203C>T (p.A68V) - MAGEA8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.226G>A r.(?) p.(Asp76Asn) - likely benign g.149013272G>A g.149884498G>A MAGEA8(NM_001166400.1):c.226G>A (p.D76N) - MAGEA8-AS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.374G>A r.(?) p.(Arg125His) - likely benign g.149013420G>A - MAGEA8(NM_001166400.1):c.374G>A (p.R125H) - MAGEA8-AS1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.596C>T r.(?) p.(Thr199Met) - likely benign g.149013642C>T g.149884868C>T MAGEA8(NM_001166400.1):c.596C>T (p.T199M) - MAGEA8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.619A>G r.(?) p.(Ile207Val) - likely benign g.149013665A>G g.149884891A>G MAGEA8(NM_001166400.1):c.619A>G (p.I207V, p.(Ile207Val)) - MAGEA8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.619A>G r.(?) p.(Ile207Val) - likely benign g.149013665A>G g.149884891A>G MAGEA8(NM_001166400.1):c.619A>G (p.I207V, p.(Ile207Val)) - MAGEA8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.652C>T r.(?) p.(Arg218Cys) - VUS g.149013698C>T g.149884924C>T MAGEA8(NM_001166400.1):c.652C>T (p.(Arg218Cys)) - MAGEA8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 4 c.681G>A r.(?) p.(=) - VUS g.149013727G>A - 681A>G;A227A - MAGEA8_000006 recurrent, found 129 times 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 - 129/208 cases - 0 - Lucy Raymond
?/. 4 c.849A>G r.(?) p.(=) - VUS g.149013895A>G g.149885121A>G E283E - MAGEA8_000007 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
?/. 4 c.918C>T r.(?) p.(=) - VUS g.149013964C>T g.149885190C>T S306S - MAGEA8_000008 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
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