Full data view for gene PFKM

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

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-12037A>T r.(?) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-913C>A r.(?) p.(=) Unknown - benign g.48512285C>A g.48118502C>A PFKM(NM_001166686.2):c.206-4265C>A - PFKM_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-5G>A r.(?) p.(=) Unknown - VUS g.48516553G>A g.48122770G>A PFKM(NM_001166686.2):c.209G>A (p.W70*) - PFKM_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.237+1G>A r.spl? p.? Unknown - pathogenic g.48525177G>A g.48131394G>A PFKM(NM_001166686.2):c.450+1G>A - PFKM_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.298C>T r.(?) p.(Arg100*) Unknown - likely pathogenic g.48526711C>T g.48132928C>T - - PFKM_000010 no second variant detected in PFKM - - rs374547385 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
-/. - c.299G>A r.(?) p.(Arg100Gln) Unknown - benign g.48526712G>A g.48132929G>A PFKM(NM_001166686.1):c.512G>A (p.R171Q) - PFKM_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.306C>T r.(?) p.(Ala102=) Parent #1 - likely benign g.48526719C>T g.48132936C>T - - PFKM_000008 29 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs11552507 Germline - 29/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 29 Mohammed Faruq
?/. - c.461G>C r.(?) p.(Ser154Thr) Unknown - - g.48527131G>C - PFKM(NM_001354736.1):c.770G>C (p.S257T) - chr12_007093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.874C>T r.(?) p.(Arg292Trp) Unknown - - g.48529104C>T - PFKM(NM_001354736.1):c.1183C>T (p.R395W) - chr12_007094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.935T>C r.(?) p.(Leu312Pro) Both (homozygous) - VUS g.48529165T>C g.48135382T>C - - PFKM_000011 - - - - Germline - - - 0 - DNA ? - - GSD-7 - - - - - - - - 0 - - 1 Oscar Soto
?/. - c.1104C>T r.(?) p.(Asp368=) Unknown - VUS g.48533109C>T g.48139326C>T PFKM(NM_001166686.2):c.1317C>T (p.D439=) - PFKM_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2087G>A r.(?) p.(Arg696His) Parent #1 - VUS g.48538908G>A g.48145125G>A - - PFKM_000009 conflicting interpretations of pathogenicity; 9 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs41291971 Germline - 9/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 9 Mohammed Faruq
?/. - c.2204G>A r.(?) p.(Arg735Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2334T>G r.(?) p.(Ala778=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
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