All transcript variants in gene MPO

Information The variants shown are described using the NM_000250.1 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend  

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.1705C>T pathogenic r.(?) p.(Arg569Trp) g.56350196G>A - MPO(NM_000250.1):c.1705C>T (p.R569W) - MPO_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.1705C>T pathogenic r.(?) p.(Arg569Trp) g.56350196G>A - MPO(NM_000250.1):c.1705C>T (p.R569W) - MPO_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1705C>T pathogenic r.(?) p.(Arg569Trp) g.56350196G>A - MPO(NM_000250.1):c.1705C>T (p.R569W) - MPO_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
Legend