All variants in the PFKM gene

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

1 entry on 1 page. Showing entry 1.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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.298C>T r.(?) p.(Arg100*) - likely pathogenic g.48526711C>T g.48132928C>T - - PFKM_000010 no second variant detected in PFKM - - rs374547385 Germline - - - 0 - Andreas Laner
Legend   How to query