Unique variants in gene MN1

Information The variants shown are described using the NM_002430.2 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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     
+/. 2 _1_2_ c.-955_*2638[0] pathogenic (dominant) r.0 p.0 g.(28000000_28105465)_(28235360_28300000)del, g.(27900000_27963416)_(29132458_29200000)del - 130 kb del chr22:28105465-28235360, 1.17 Mb del chr22:27963416-29132458 - MN1_000011 - PubMed: Mak 2019 - - De novo - - - - - Johan den Dunnen
+/. 1 1 c.536del pathogenic (dominant) r.(?) p.(Ser179*) g.28195996del g.27800008del 536delC - MN1_000022 - PubMed: Mak 2019 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.820_826del pathogenic (recessive) r.(?) p.(Gly274Profs*47) g.54684518_54684524del g.54180801_54180807del - - TMEM8C_000005 - PubMed: Johansen 2016 - - Germline yes - - - - Johan den Dunnen
+/. 1 1 c.1091dup pathogenic (dominant) r.(?) p.(Pro365Thrfs*120) g.28195441dup g.27799453dup 1091dupC - MN1_000021 - PubMed: Mak 2019 - - De novo - - - - - Johan den Dunnen
+/., ?/. 2 1 c.1415C>A pathogenic (dominant), VUS r.(?) p.(Ser472*) g.28195117G>T g.27799129G>T MN1(NM_002430.2):c.1415C>A (p.?) - MN1_000006 VKGL data sharing initiative Nederland PubMed: Mak 2019 - - De novo, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL
-?/. 1 - c.1605G>A likely benign r.(?) p.(=) g.28194927C>T - MN1(NM_002430.2):c.1605G>A (p.Q535=) - MN1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1620A>G likely benign r.(?) p.(=) g.28194912T>C - MN1(NM_002430.2):c.1620A>G (p.Q540=) - MN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2079C>T likely benign r.(?) p.(=) g.28194453G>A - MN1(NM_002430.2):c.2079C>T (p.P693=) - MN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2349T>G benign r.(?) p.(=) g.28194183A>C - MN1(NM_002430.2):c.2349T>G (p.G783=) - MN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 1 c.3727_3731dup pathogenic (dominant) r.(?) p.(Leu1245Argfs*77) g.28192801_28192805dup g.27796813_27796817dup 3730_3731insAAGAC (Thr1244Lysfs*78) - MN1_000020 - PubMed: Mak 2019 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.3731C>T VUS r.(?) p.(Thr1244Met) g.28192801G>A - MN1(NM_002430.2):c.3731C>T (p.T1244M) - MN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 1 c.3745G>T pathogenic (dominant) r.3745g>u p.Glu1249* g.28192787C>A g.27796799C>A - - MN1_000019 - PubMed: Mak 2019 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 1 c.3778G>T pathogenic (dominant) r.(?) p.(Glu1260*) g.28192754C>A g.27796766C>A - - MN1_000018 - PubMed: Mak 2019 - - De novo - - - - - Johan den Dunnen
+/. 4 2 c.3817C>T pathogenic (dominant) r.(?) p.(Gln1273*) g.28147049G>A g.27751061G>A - - MN1_000017 - PubMed: Mak 2019 - - De novo, Germline, Somatic yes - - - - Johan den Dunnen
+/. 1 - c.3835C>T pathogenic (dominant) r.(?) p.(Gln1279*) g.28147031G>A g.27751043G>A - - MN1_000009 - PubMed: Miyake 2020, Journal: Miyake - - De novo - - - - - Johan den Dunnen
+/. 1 2 c.3839delG pathogenic (dominant) r.(?) p.(Cys1280Serfs*40) g.28147027delC g.27751039delC - - MN1_000016 - PubMed: Mak 2019 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.3846_3849del pathogenic (dominant) r.(?) p.(Val1283Thrfs*36) g.28147017_28147020del g.27751029_27751032del - - MN1_000010 - PubMed: Miyake 2020, Journal: Miyake - - De novo - - - - - Johan den Dunnen
+/. 1 2 c.3849_3850delinsA pathogenic (dominant) r.(?) p.(His1284Thrfs*36) g.28147016_28147017delinsT g.27751028_27751029delinsT - - MN1_000015 - PubMed: Mak 2019 - - De novo - - - - - Johan den Dunnen
+/. 1 2 c.3870_3879dup pathogenic (dominant) r.3870_3879dup p.Ala1294* g.28146987_28146996dup g.27750999_27751008dup - - MN1_000007 - PubMed: Mak 2019 - - De novo - - - - - Johan den Dunnen
+?/., +/. 10 2 c.3883C>T likely pathogenic, pathogenic (dominant) r.(?) p.(Arg1295*) g.28146983G>A g.27750995G>A MN1(NM_002430.2):c.3883C>T (p.R1295*) - MN1_000008 VKGL data sharing initiative Nederland PubMed: Miyake 2020, Journal: Miyake, PubMed: Mak 2019 - - CLASSIFICATION record, De novo - - - - - VKGL-NL, Johan den Dunnen
+/. 1 2 c.3893_3894dup pathogenic (dominant) r.(?) p.(Pro1299Cysfs*22) g.28146972_28146973dup g.27750984_27750985dup 3893_3894dupTG - MN1_000014 - PubMed: Mak 2019 - - De novo - - - - - Johan den Dunnen
+/. 3 2 c.3903G>A pathogenic (dominant) r.(?), r.3903g>a p.(Trp1301*), p.Trp1301* g.28146963C>T g.27750975C>T - - MN1_000013 - PubMed: Mak 2019 - - De novo - - - - - Johan den Dunnen
+/. 1 2 c.3926_3931delins(17) pathogenic (dominant) r.(?) p.(Ser1309*) g.28146935_28146940delins(17) g.27750947_27750952delins(17) 3926_3931 delCCAACAins17 - MN1_000012 - PubMed: Mak 2019 - - De novo - - - - - Johan den Dunnen
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