Unique variants in the MAGEH1 gene

Information The variants shown are described using the NM_014061.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Reported     

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     
?/. 1 - c.62A>C r.(?) p.(Asn21Thr) - VUS g.55478869A>C g.55452436A>C - - MAGEH1_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.130C>A r.(?) p.(Pro44Thr) - likely benign g.55478937C>A g.55452504C>A MAGEH1(NM_014061.3):c.130C>A (p.(Pro44Thr)) - MAGEH1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.206C>T r.(?) p.(Ser69Leu) - VUS g.55479013C>T g.55452580C>T - - MAGEH1_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.492G>A r.(=) p.(=) - likely benign g.55479299G>A g.55452866G>A G164G - MAGEH1_000003 recurrent, found 45 times PubMed: Tarpey 2009 - - Germline - 45/208 cases - - - Lucy Raymond
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