All transcript variants in gene PFKM

Information The variants shown are described using the NM_000289.5 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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.-12037A>T benign r.(?) p.(=) g.48501161A>T - PFKM(NM_001166686.1):c.5A>T (p.H2L) - PFKM_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-913C>A benign r.(?) p.(=) g.48512285C>A - PFKM(NM_001166686.1):c.206-4265C>A - PFKM_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-5G>A VUS r.(?) p.(=) g.48516553G>A - PFKM(NM_001166686.1):c.209G>A (p.W70*) - PFKM_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.237+1G>A pathogenic r.spl? p.? g.48525177G>A - PFKM(NM_001166686.1):c.450+1G>A - PFKM_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.299G>A benign r.(?) p.(Arg100Gln) g.48526712G>A - PFKM(NM_001166686.1):c.512G>A (p.R171Q) - PFKM_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1104C>T VUS r.(?) p.(=) g.48533109C>T - PFKM(NM_001166686.1):c.1317C>T (p.=) - PFKM_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2204G>A VUS r.(?) p.(Arg735Gln) g.48539352G>A - PFKM(NM_001166686.1):c.2417G>A (p.R806Q) - ASB8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.2334T>G benign r.(?) p.(=) g.48539482T>G - PFKM(NM_001166686.1):c.2547T>G (p.A849=) - PFKM_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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