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.
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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.995C>T pathogenic r.(?) p.(Ala332Val) g.56355397G>A - MPO:c.995C>T (A332V) - MPO_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.995C>T - r.(?) p.(Ala332Val) g.56355397G>A - - - MPO_000007 - Papuc et al., submitted - rs28730837 Germline - - - 0 - Anaïs Begemann
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