Full data view for gene MAGEB18

Information The variants shown are described using the NM_173699.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.61G>A r.(?) p.(Glu21Lys) Unknown - VUS g.26157163G>A g.26139046G>A MAGEB18(NM_173699.3):c.61G>A (p.(Glu21Lys)) - MAGEB18_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.118T>C - - Parent #1 - VUS g.26157220T>C - 118C>T;P40S - MAGEB18_000005 recurrent, found 21 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 - 21/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 21 Lucy Raymond
-?/. - c.188C>T r.(?) p.(Ala63Val) Unknown - likely benign g.26157290C>T g.26139173C>T MAGEB18(NM_173699.3):c.188C>T (p.A63V) - MAGEB18_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.194A>G r.(?) p.(Gln65Arg) Parent #1 - VUS g.26157296A>G g.26139179A>G Q65R - MAGEB18_000006 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.653C>T r.(?) p.(Ala218Val) Unknown - VUS g.26157755C>T g.26139638C>T MAGEB18(NM_173699.3):c.653C>T (p.A218V) - MAGEB18_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.680G>C r.(?) p.(Gly227Ala) Unknown - likely benign g.26157782G>C g.26139665G>C MAGEB18(NM_173699.3):c.680G>C (p.G227A) - MAGEB18_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.930G>A r.(=) p.(=) Parent #1 - VUS g.26158032G>A g.26139915G>A E310E - MAGEB18_000007 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
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