Transcript #00016012

Transcript name transcript variant 4
Gene name PFKM (phosphofructokinase, muscle)
Chromosome 12
Transcript - NCBI ID NM_000289.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_000280.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

8 entries on 1 page. Showing entries 1 - 8.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-12037A>T benign r.(?) p.(=)
-/. - c.-913C>A benign r.(?) p.(=)
?/. - c.-5G>A VUS r.(?) p.(=)
+/. - c.237+1G>A pathogenic r.spl? p.?
-/. - c.299G>A benign r.(?) p.(Arg100Gln)
?/. - c.1104C>T VUS r.(?) p.(=)
?/. - c.2204G>A VUS r.(?) p.(Arg735Gln)
-/. - c.2334T>G benign r.(?) p.(=)
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