Unique variants in gene PPM1E

Information The variants shown are described using the NM_014906.4 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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.1885G>A likely benign r.(?) p.(Ala629Thr) g.57058009G>A - PPM1E(NM_014906.4):c.1885G>A (p.(Ala629Thr)) - TRIM37_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1918T>C likely benign r.(?) p.(Tyr640His) g.57058042T>C - PPM1E(NM_014906.4):c.1918T>C (p.(Tyr640His)) - TRIM37_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*34643C>G likely benign r.(=) p.(=) g.57093035C>G - TRIM37(NM_015294.4):c.2512G>C (p.V838L) - TRIM37_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.*34643C>T likely benign, benign r.(=) p.(=) g.57093035C>T - TRIM37(NM_001005207.2):c.2512G>A (p.V838I) - TRIM37_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-?/. 1 - c.*34701G>A likely benign r.(=) p.(=) g.57093093G>A - TRIM37(NM_015294.4):c.2454C>T (p.I818=) - TRIM37_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*47594C>T likely benign r.(=) p.(=) g.57105986C>T - TRIM37(NM_001005207.2):c.2047G>A (p.(Ala683Thr)) - TRIM37_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.*50894C>T VUS r.(=) p.(=) g.57109286C>T - TRIM37(NM_001005207.2):c.1919G>A (p.(Arg640His)) - TRIM37_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.*51062G>A VUS r.(=) p.(=) g.57109454G>A - TRIM37(NM_001005207.2):c.1754-3C>T (p.?) - TRIM37_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*66634_*66635insAAACTG likely benign r.(=) p.(=) g.57125026_57125027insAAACTG - TRIM37(NM_001005207.2):c.1667+18_1667+19insAGTTTC - TRIM37_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*66779_*66781del VUS r.(=) p.(=) g.57125171_57125173del - TRIM37(NM_001005207.2):c.1538_1540del (p.(Leu513_Ser514delinsPro)) - TRIM37_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*66783_*66784insAT VUS r.(=) p.(=) g.57125175_57125176insAT - TRIM37(NM_001005207.2):c.1536_1537insAT (p.(Leu513IlefsTer17)) - TRIM37_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*66786G>C VUS r.(=) p.(=) g.57125178G>C - TRIM37(NM_001005207.2):c.1533C>G (p.(His511Gln)) - TRIM37_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*66787T>A VUS r.(=) p.(=) g.57125179T>A - TRIM37(NM_001005207.2):c.1532A>T (p.(His511Leu)) - TRIM37_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*68230C>T VUS r.(=) p.(=) g.57126622C>T - TRIM37(NM_015294.4):c.1447G>A (p.E483K) - TRIM37_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*68291G>T likely benign r.(=) p.(=) g.57126683G>T - TRIM37(NM_015294.4):c.1386C>A (p.P462=) - TRIM37_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*68320A>T likely benign r.(=) p.(=) g.57126712A>T - TRIM37(NM_001005207.2):c.1357T>A (p.L453M) - TRIM37_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*70207G>C likely benign r.(=) p.(=) g.57128599G>C - TRIM37(NM_001005207.2):c.1290C>G (p.(Ile430Met)) - TRIM37_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*70233A>G benign r.(=) p.(=) g.57128625A>G - TRIM37(NM_001005207.2):c.1264T>C (p.=) - TRIM37_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*81566T>C likely benign r.(=) p.(=) g.57139958T>C - TRIM37(NM_001005207.2):c.912A>G (p.=) - TRIM37_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*81617G>C likely benign r.(=) p.(=) g.57140009G>C - TRIM37(NM_001005207.2):c.861C>G (p.(Ser287Arg)) - TRIM37_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.*81623G>A likely benign, benign r.(=) p.(=) g.57140015G>A - TRIM37(NM_001005207.2):c.861-6C>T (p.(=)) - TRIM37_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
?/. 1 - c.*83363G>C VUS r.(=) p.(=) g.57141755G>C - TRIM37(NM_015294.4):c.821C>G (p.P274R) - TRIM37_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*83367C>A likely benign r.(=) p.(=) g.57141759C>A - TRIM37(NM_001005207.2):c.817G>T (p.V273L) - TRIM37_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 3 - c.*83387del likely benign, benign r.(?) p.(=) g.57141779del - TRIM37(NM_001005207.2):c.810-3delT (p.?) - TRIM37_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc, VKGL-NL_Utrecht
-?/. 1 - c.*83387dup likely benign r.(?) p.(=) g.57141779dup - TRIM37(NM_001005207.2):c.810-3dupT (p.?) - TRIM37_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*89864A>G likely benign r.(=) p.(=) g.57148256A>G - TRIM37(NM_001005207.2):c.737T>C (p.(Met246Thr)) - TRIM37_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*98767G>C VUS r.(=) p.(=) g.57157159G>C - TRIM37(NM_015294.4):c.572C>G (p.A191G) - TRIM37_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.*100160G>A likely benign, benign r.(=) p.(=) g.57158552G>A - TRIM37(NM_001005207.2):c.398C>T (p.A133V) - TRIM37_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
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