All transcript variants in gene MN1

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

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

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     
?/. - c.1415C>A VUS r.(?) p.(Ser472*) g.28195117G>T - MN1(NM_002430.2):c.1415C>A (p.?) - MN1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - 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 - - - 0 - VKGL-NL
-?/. - 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 - - - 0 - VKGL-NL
-?/. - 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 - - - 0 - VKGL-NL
-/. - 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 - - - 0 - VKGL-NL
?/. - 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 - - - 0 - VKGL-NL
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