All variants in the MAGEB6 gene

Information The variants shown are described using the NM_173523.2 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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.11G>T r.(?) p.(Gly4Val) - VUS g.26211974G>T g.26193857G>T MAGEB6(NM_173523.2):c.11G>T (p.(Gly4Val)) - MAGEB6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.56A>G r.(?) p.(Asn19Ser) - likely benign g.26212019A>G g.26193902A>G MAGEB6(NM_173523.2):c.56A>G (p.N19S) - MAGEB6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.58G>A r.(?) p.(Gly20Ser) - likely benign g.26212021G>A - MAGEB6(NM_173523.2):c.58G>A (p.G20S) - MAGEB6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.138C>T r.(=) p.(=) - likely benign g.26212101C>T g.26193984C>T R46R - MAGEB6_000006 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. - c.139G>A r.(?) p.(Ala47Thr) - likely benign g.26212102G>A - MAGEB6(NM_173523.2):c.139G>A (p.A47T) - MAGEB6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.219T>C r.(=) p.(=) - likely benign g.26212182T>C g.26194065T>C P73P - MAGEB6_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. - c.288C>T r.(=) p.(=) - likely benign g.26212251C>T g.26194134C>T T96T - MAGEB6_000008 recurrent, found 17 times PubMed: Tarpey 2009 - - Germline - 17/208 cases - - - Lucy Raymond
?/. - c.293G>A r.(?) p.(Arg98His) - VUS g.26212256G>A g.26194139G>A - - MAGEB6_000009 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - - - Lucy Raymond
?/. - c.299C>T r.(?) p.(Ala100Val) - VUS g.26212262C>T g.26194145C>T - - MAGEB6_000010 recurrent, found 9 times PubMed: Tarpey 2009 - - Germline - 9/208 cases - - - Lucy Raymond
-?/. - c.339C>G r.(=) p.(=) - likely benign g.26212302C>G g.26194185C>G G113G - MAGEB6_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. - c.342T>G r.(=) p.(=) - likely benign g.26212305T>G g.26194188T>G S114S - MAGEB6_000012 recurrent, found 9 times PubMed: Tarpey 2009 - - Germline - 9/208 cases - - - Lucy Raymond
-?/. - c.447G>A r.(?) p.(Gln149=) - likely benign g.26212410G>A - MAGEB6(NM_173523.2):c.447G>A (p.Q149=) - MAGEB6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.514G>C r.(?) p.(Gly172Arg) - VUS g.26212477G>C g.26194360G>C - - MAGEB6_000013 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - Lucy Raymond
-?/. - c.514G>C r.(?) p.(Gly172Arg) - likely benign g.26212477G>C - MAGEB6(NM_173523.2):c.514G>C (p.(Gly172Arg)) - MAGEB6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.669G>C r.(?) p.(Lys223Asn) - VUS g.26212632G>C g.26194515G>C MAGEB6(NM_173523.2):c.669G>C (p.K223N) - MAGEB6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.774C>T r.(=) p.(=) - likely benign g.26212737C>T g.26194620C>T S258S - MAGEB6_000014 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. - c.1162C>T r.(?) p.(Pro388Ser) - VUS g.26213125C>T g.26195008C>T - - MAGEB6_000015 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - Lucy Raymond
?/. - c.1187T>C r.(?) p.(Ile396Thr) - VUS g.26213150T>C g.26195033T>C - - MAGEB6_000016 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
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