Unique variants in gene MAP3K12

Information The variants shown are described using the NM_006301.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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.475_478del r.(?) p.(Glu159ProfsTer9) - - g.53880278_53880281del - - - MAP3K12_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.817A>T r.(?) p.(Thr273Ser) - VUS g.53879165T>A g.53485381T>A - - MAP3K12_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1766C>A r.(?) p.(Ala589Asp) - VUS g.53876722G>T g.53482938G>T - - MAP3K12_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1864G>A r.(?) p.(Gly622Ser) - VUS g.53876624C>T g.53482840C>T - - MAP3K12_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2527G>A r.(?) p.(Asp843Asn) - VUS g.53875019C>T g.53481235C>T - - MAP3K12_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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