Full data view for gene MAGEA12

Information The variants shown are described using the NM_005367.5 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
Legend   How to query  

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.-1479G>A r.(?) p.(=) Unknown - likely benign g.151904507C>T - CSAG1(NM_153478.2):c.5C>T (p.S2L) - MAGEA12_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-76+80A>G r.(=) p.(=) Maternal (inferred) - VUS g.151903024T>C g.152733937C>G - - MAGEA12_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-76+80A>G r.(=) p.(=) Maternal (inferred) - VUS g.151903024T>C g.152733937C>G - - MAGEA12_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-76+118C>G r.(=) p.(=) Maternal (inferred) - VUS g.151902986G>C g.152733975C>G - - MAGEA12_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-76+283del r.(=) p.(=) Maternal (inferred) - VUS g.151902827del - - - MAGEA12_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-76+284del r.(=) p.(=) Maternal (inferred) - VUS g.151902820del g.152734142del - - MAGEA12_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-76+284del r.(=) p.(=) Maternal (inferred) - VUS g.151902820del g.152734142del - - MAGEA12_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.463T>G r.(?) p.(Ser155Ala) Unknown - likely benign g.151900338A>C g.152736622C>G MAGEA12(NM_001166386.1):c.463T>G (p.(Ser155Ala)) - MAGEA12_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.511C>T r.(?) p.(Arg171Cys) Unknown - VUS g.151900290G>A - MAGEA12(NM_001166386.3):c.511C>T (p.R171C) - MAGEA12_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.514A>T r.(?) p.(Ile172Phe) Unknown - likely benign g.151900287T>A - MAGEA12(NM_001166386.1):c.514A>T (p.(Ile172Phe)) - MAGEA12_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.585C>T r.(?) p.(Ile195=) Unknown - likely benign g.151900216G>A - MAGEA12(NM_001166386.3):c.585C>T (p.I195=) - MAGEA12_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.688G>A r.(?) p.(Ala230Thr) Unknown - likely benign g.151900113C>T g.152736847= MAGEA12(NM_001166386.3):c.688G>A (p.A230T) - MAGEA12_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.807C>T r.(=) p.(=) Parent #1 - likely benign g.151899994G>A g.152736966= Y269Y - MAGEA12_000014 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.835G>A r.(?) p.(Val279Ile) Unknown - likely benign g.151899966C>T g.152736994T>A MAGEA12(NM_001166386.3):c.835G>A (p.V279I) - MAGEA12_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.888A>G r.(=) p.(=) Parent #1 - likely benign g.151899913T>C g.152737047= G296G - MAGEA12_000013 recurrent, found 71 times PubMed: Tarpey 2009 - - Germline - 71/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 71 Lucy Raymond
?/. - c.*96T>C r.(=) p.(=) Maternal (inferred) - VUS g.151899760A>G g.152737200G>C - - MAGEA12_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*96T>C r.(=) p.(=) Maternal (inferred) - VUS g.151899760A>G g.152737200G>C - - MAGEA12_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
Legend   How to query