Unique variants in the PFKM gene

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

13 entries on 1 page. Showing entries 1 - 13.
Legend   How to query  

Effect     

Reported     

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     
-/. 1 - c.-12037A>T r.(?) p.(=) - benign g.48501161A>T g.48107378A>T PFKM(NM_001166686.2):c.5A>T (p.H2L) - PFKM_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.-913C>A r.(?) p.(=) - benign g.48512285C>A g.48118502C>A PFKM(NM_001166686.2):c.206-4265C>A - PFKM_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.-5G>A r.(?) p.(=) - VUS g.48516553G>A - PFKM(NM_001166686.2):c.209G>A (p.W70*) - PFKM_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.237+1G>A r.spl? p.? - pathogenic g.48525177G>A - PFKM(NM_001166686.2):c.450+1G>A - PFKM_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 - c.298C>T r.(?) p.(Arg100*) - likely pathogenic g.48526711C>T g.48132928C>T - - PFKM_000010 no second variant detected in PFKM - - rs374547385 Germline - - - - - Andreas Laner
-/. 1 - c.299G>A r.(?) p.(Arg100Gln) - benign g.48526712G>A g.48132929G>A PFKM(NM_001166686.2):c.512G>A (p.R171Q) - PFKM_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.306C>T r.(?) p.(Ala102=) - likely benign g.48526719C>T g.48132936C>T - - PFKM_000008 29 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11552507 Germline - 29/2794 individuals - - - Mohammed Faruq
?/. 1 - c.461G>C r.(?) p.(Ser154Thr) - VUS g.48527131G>C - PFKM(NM_001354736.1):c.770G>C (p.S257T) - PFKM_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.935T>C r.(?) p.(Leu312Pro) - VUS g.48529165T>C g.48135382T>C - - PFKM_000011 - - - - Germline - - - - - Oscar Soto
?/. 1 - c.1104C>T r.(?) p.(Asp368=) - VUS g.48533109C>T - PFKM(NM_001166686.2):c.1317C>T (p.D439=) - PFKM_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.2087G>A r.(?) p.(Arg696His) - VUS g.48538908G>A g.48145125G>A - - PFKM_000009 conflicting interpretations of pathogenicity; 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41291971 Germline - 9/2795 individuals - - - Mohammed Faruq
?/. 1 - c.2204G>A r.(?) p.(Arg735Gln) - VUS g.48539352G>A g.48145569G>A PFKM(NM_001166686.2):c.2417G>A (p.R806Q) - ASB8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2334T>G r.(?) p.(Ala778=) - benign g.48539482T>G g.48145699T>G PFKM(NM_001166686.2):c.2547T>G (p.A849=) - PFKM_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
Legend   How to query