All transcript variants in gene MPO

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

2 entries on 1 page. Showing entries 1 - 2.
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:c.1705C>T (R569W) - MPO_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.1705C>T pathogenic r.(?) p.(Arg569Trp) g.56350196G>A - MPO:NM_000250.1:c.1705C>T (Arg569Trp) - MPO_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
Legend