Full data view for gene PFKFB1

Information The variants shown are described using the NM_002625.2 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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.-4417A>G r.(?) p.(=) Unknown - VUS g.55024857T>C g.54998424T>C PFKFB1(NM_001271804.1):c.-4417A>G (p.(=)) - PFKFB1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4413C>A r.(?) p.(=) Unknown - VUS g.55024853G>T g.54998420G>T PFKFB1(NM_001271804.1):c.-4413C>A (p.(=)) - PFKFB1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.70A>G r.(?) p.(Ser24Gly) Unknown - likely benign g.55020371T>C - PFKFB1(NM_002625.3):c.70A>G (p.S24G) - PFKFB1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.85C>T r.(?) p.(Arg29Trp) Unknown - VUS g.55020356G>A g.54993923G>A PFKFB1(NM_001271804.1):c.85C>T (p.(Arg29Trp)) - PFKFB1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.122C>T r.(?) p.(Ser41Phe) Unknown - VUS g.54989791G>A g.54963358G>A PFKFB1(NM_001271804.1):c.122C>T (p.(Ser41Phe)) - PFKFB1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.122C>T r.(?) p.(Ser41Phe) Parent #1 - VUS g.54989791G>A g.54963358G>A - - PFKFB1_000016 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.232T>G r.(?) p.(Leu78Val) Unknown - likely benign g.54987342A>C g.54960909A>C PFKFB1(NM_001271805.1):c.37T>G (p.(Leu13Val)) - PFKFB1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.444A>G r.(?) p.(Lys148=) Unknown - likely benign g.54985299T>C - PFKFB1(NM_002625.3):c.444A>G (p.K148=) - PFKFB1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.516+6G>A r.(=) p.(=) Unknown - likely benign g.54984733C>T g.54958300C>T PFKFB1(NM_001271804.1):c.450+6G>A (p.(=)) - PFKFB1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.676C>T r.(?) p.(Arg226Cys) Unknown - likely benign g.54978508G>A g.54952075G>A PFKFB1(NM_001271804.1):c.610C>T (p.(Arg204Cys)) - PFKFB1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.692G>A r.(?) p.(Arg231Gln) Unknown - likely benign g.54978492C>T g.54952059C>T PFKFB1(NM_002625.3):c.692G>A (p.R231Q) - PFKFB1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.835C>T r.(?) p.(Arg279Cys) Unknown - likely benign g.54978349G>A g.54951916G>A PFKFB1(NM_002625.2):c.835C>T (p.(Arg279Cys)) - PFKFB1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.847-205_847-204del r.(=) p.(=) Maternal (inferred) - VUS g.54975888_54975889del g.54949455_54949456del - - PFKFB1_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.847-204_847-201del r.(=) p.(=) Unknown - VUS g.54975857_54975860del g.54949424_54949427del - - PFKFB1_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.847-203_847-202del r.(=) p.(=) Unknown - VUS g.54975857_54975858del g.54949424_54949425del - - PFKFB1_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.977T>A r.(?) p.(Leu326Gln) Unknown - VUS g.54975524A>T g.54949091A>T PFKFB1(NM_002625.3):c.977T>A (p.L326Q) - PFKFB1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.994-242C>T r.(=) p.(=) Maternal (inferred) - VUS g.54972218G>A g.54945785G>A - - PFKFB1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.994-242C>T r.(=) p.(=) Maternal (inferred) - VUS g.54972218G>A g.54945785G>A - - PFKFB1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.994-3C>T r.spl? p.? Unknown - likely benign g.54971979G>A - PFKFB1(NM_002625.3):c.994-3C>T - PFKFB1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1049T>A r.(?) p.(Phe350Tyr) Unknown - likely benign g.54971921A>T g.54945488A>T PFKFB1(NM_001271804.1):c.983T>A (p.(Phe328Tyr)), PFKFB1(NM_002625.3):c.1049T>A (p.F350Y) - PFKFB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1049T>A r.(?) p.(Phe350Tyr) Unknown - likely benign g.54971921A>T - PFKFB1(NM_001271804.1):c.983T>A (p.(Phe328Tyr)), PFKFB1(NM_002625.3):c.1049T>A (p.F350Y) - PFKFB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1099-8A>T r.(=) p.(=) Unknown - likely benign g.54964165T>A g.54937732T>A PFKFB1(NM_002625.4):c.1099-8A>T - PFKFB1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1193G>A r.(?) p.(Arg398Gln) Unknown - likely benign g.54964063C>T - PFKFB1(NM_002625.4):c.1193G>A (p.(Arg398Gln)) - PFKFB1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1214T>C r.(?) p.(Leu405Pro) Unknown - VUS g.54964042A>G - PFKFB1(NM_002625.3):c.1214T>C (p.L405P) - PFKFB1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1223G>A r.(?) p.(Ser408Asn) Unknown - VUS g.54964033C>T g.54937600C>T PFKFB1(NM_001271804.1):c.1157G>A (p.(Ser386Asn)), PFKFB1(NM_002625.3):c.1223G>A (p.S408N) - PFKFB1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1223G>A r.(?) p.(Ser408Asn) Unknown - likely benign g.54964033C>T - PFKFB1(NM_001271804.1):c.1157G>A (p.(Ser386Asn)), PFKFB1(NM_002625.3):c.1223G>A (p.S408N) - PFKFB1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1282dup r.(?) p.(Val428GlyfsTer25) Unknown - VUS g.54961389dup - PFKFB1(NM_002625.3):c.1282dupG (p.V428Gfs*25) - TRO_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1343G>A r.(?) p.(Arg448Gln) Unknown - VUS g.54960267C>T g.54933834C>T PFKFB1(NM_002625.3):c.1343G>A (p.R448Q) - TRO_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2094A>G r.(=) p.(=) Unknown - likely benign g.54957742T>C - TRO(NM_016157.3):c.2092T>C (p.Y698H) - TRO_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2119_*2120del r.(=) p.(=) Unknown - VUS g.54957717_54957718del g.54931284_54931285del TRO(NM_001039705.2):c.*91_*92del (p.(=)) - TRO_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2187A>G r.(=) p.(=) Unknown - likely benign g.54957649T>C - TRO(NM_016157.3):c.1999T>C (p.C667R) - TRO_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2574C>T r.(=) p.(=) Unknown - VUS g.54957262G>A g.54930829G>A TRO(NM_001039705.2):c.4105G>A (p.(Gly1369Ser)) - TRO_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2615G>A r.(=) p.(=) Unknown - VUS g.54957221C>T - TRO(NM_001039705.2):c.4064C>T (p.(Thr1355Met)) - TRO_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2660C>T r.(=) p.(=) Unknown - likely benign g.54957176G>A g.54930743G>A TRO(NM_001039705.2):c.4019G>A (p.(Gly1340Asp)) - TRO_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2791A>C r.(=) p.(=) Unknown - likely benign g.54957045T>G g.54930612T>G TRO(NM_001039705.2):c.3888T>G (p.(Asn1296Lys)) - TRO_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2988C>T r.(=) p.(=) Unknown - likely benign g.54956848G>A g.54930415G>A TRO(NM_001039705.2):c.3691G>A (p.(Gly1231Ser)) - TRO_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3093C>T r.(=) p.(=) Unknown - likely benign g.54956743G>A g.54930310G>A TRO(NM_001039705.2):c.3586G>A (p.G1196S) - TRO_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3111C>T r.(=) p.(=) Unknown - VUS g.54956725G>A g.54930292G>A TRO(NM_001039705.2):c.3568G>A (p.G1190R) - TRO_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3272C>A r.(=) p.(=) Unknown - VUS g.54956564G>T g.54930131G>T TRO(NM_001039705.2):c.3407G>T (p.(Ser1136Ile)) - TRO_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3452C>T r.(=) p.(=) Unknown - VUS g.54956384G>A g.54929951G>A TRO(NM_001039705.2):c.3227G>A (p.S1076N) - TRO_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3540C>T r.(=) p.(=) Unknown - likely benign g.54956296G>A g.54929863G>A TRO(NM_001039705.2):c.3139G>A (p.V1047I, p.(Val1047Ile)) - TRO_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3540C>T r.(=) p.(=) Unknown - likely benign g.54956296G>A g.54929863G>A TRO(NM_001039705.2):c.3139G>A (p.V1047I, p.(Val1047Ile)) - TRO_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4005T>C r.(=) p.(=) Unknown - likely benign g.54955831A>G - TRO(NM_001039705.2):c.2674A>G (p.I892V) - TRO_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4036A>C r.(=) p.(=) Unknown - likely benign g.54955800T>G - TRO(NM_001039705.2):c.2643T>G (p.S881R) - TRO_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4112G>A r.(=) p.(=) Unknown - likely benign g.54955724C>T g.54929291C>T TRO(NM_001039705.2):c.2567C>T (p.T856M, p.(Thr856Met)) - TRO_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4112G>A r.(=) p.(=) Unknown - likely benign g.54955724C>T - TRO(NM_001039705.2):c.2567C>T (p.T856M, p.(Thr856Met)) - TRO_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4415G>A r.(=) p.(=) Unknown - likely benign g.54955421C>T - TRO(NM_001039705.2):c.2264C>T (p.P755L) - TRO_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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