Unique variants in gene MAGEA6

Information The variants shown are described using the NM_005363.2 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-?/. 1 - c.29G>A likely benign - - g.151869339G>A - MAGEA6:NM_005363.2:c.29G>A, NM_175868.1:c.29G>A - MAGEA6_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.178G>A likely benign - - g.151869488G>A - MAGEA6:NM_005363.2:c.178G>A, NM_175868.1:c.178G>A - MAGEA6_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.421G>A likely benign - - g.151869731G>A - MAGEA6:NM_005363.2:c.421G>A, NM_175868.1:c.421G>A - MAGEA6_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.593A>G likely benign - - g.151869903A>G - MAGEA6:NM_005363.2:c.593A>G, NM_175868.1:c.593A>G - MAGEA6_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.717C>G likely benign r.(?) p.(Phe239Leu) g.151870027C>G - MAGEA6:NM_005363.2:c.717C>G, NM_175868.1:c.717C>G, MAGEA6:c.717C>G (F239L) - MAGEA6_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 2 - c.745T>C likely benign - - g.151870055T>C - MAGEA6:NM_005363.2:c.745T>C, NM_175868.1:c.745T>C - MAGEA6_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.751G>A likely benign - - g.151870061G>A - MAGEA6:NM_005363.2:c.751G>A, NM_175868.1:c.751G>A - MAGEA6_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.756G>T likely benign - - g.151870066G>T - MAGEA6:NM_005363.2:c.756G>T, NM_175868.1:c.756G>T - MAGEA6_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.813C>G likely benign - - g.151870123C>G - MAGEA6:NM_005363.2:c.813C>G, NM_175868.1:c.813C>G - MAGEA6_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.880A>G likely benign - - g.151870190A>G - MAGEA6:NM_005363.2:c.880A>G, NM_175868.1:c.880A>G - MAGEA6_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.908T>C likely benign - - g.151870218T>C - MAGEA6:NM_005363.2:c.908T>C, NM_175868.1:c.908T>C - MAGEA6_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.923C>T likely benign - - g.151870233C>T - MAGEA6:NM_005363.2:c.923C>T, NM_175868.1:c.923C>T - MAGEA6_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.927G>C likely benign r.(?) p.(Leu309Phe) g.151870237G>C - MAGEA6:c.927G>C (L309F) - MAGEA6_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*374A>T - - p.(=) g.151870629A>T - - - MAGEA6_000001 - - - - Germline - - - - - Yu Sun
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