Full data view for gene DPYD

Information The variants shown are described using the NM_000110.3 transcript reference sequence.

202 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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.-1427187_*543783del r.? p.? - Unknown - pathogenic g.97000749_99813665del g.96535193_99348109del - - DPYD_000018 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
./. - c.-463957_*3733049del r.? p.? - Unknown - pathogenic g.93811483_98850435del - - - DPYD_000017 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/. 8i_12i c.[850+31531_1525-15893inv;1525-15892_1525-15889del] r.? p.? - Parent #2 - pathogenic (recessive) g.[97997390_98113120inv;97997386_97997389del] - g.[98113121_97997390inv;97997386_97997389del] - DPYD_000030 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG-I - - DPDD mother PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 2-generation family, 3 affected, mother/son/daughter M - Netherlands - - 0 - - 3 Maja Tarailo-Graovac
+/. 8i_12i c.[850+31531_1525-15893inv;1525-15892_1525-15889del] r.spl p.? - Maternal (confirmed) - pathogenic (recessive) g.[97997390_98113120inv;97997386_97997389del] - g.[98113121_97997390inv;97997386_97997389del] - DPYD_000030 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - DPDD son PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - M - Netherlands - - 0 - - 1 Johan den Dunnen
-?/. - c.5C>T r.(?) p.(Ala2Val) - Unknown - likely benign g.98386474G>A - DPYD(NM_000110.3):c.5C>T (p.A2V) - DPYD_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.37G>A r.(?) p.(Glu13Lys) - Unknown - likely benign g.98386442C>T - DPYD(NM_000110.3):c.37G>A (p.E13K) - DPYD_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.62G>A r.62g>a p.Arg21Gln DPYD*12 Parent #1 - likely pathogenic g.98348908C>T g.97883352C>T G62A (R21Q) - DPYD_000014 reference haplotype DPYD*12 [62G>A; 1156G>T] PubMed: Mattison 2002 - rs80081766 Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - - - PubMed: Mattison 2002 reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
-?/. - c.73C>T r.(?) p.(His25Tyr) - Unknown - likely benign g.98348897G>A g.97883341G>A DPYD(NM_000110.3):c.73C>T (p.H25Y) - DPYD_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.85= r.(=) p.(Cys29=) - Unknown - benign g.98348885G>A - DPYD(NM_000110.3):c.85C>T (p.R29C) - DPYD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.85C= r.85c= p.Arg29= DPYD*9A Parent #1 - likely pathogenic g.98348885= - T85C - DPYD_000000 reference haplotype DPYD*9A [85T>C; 2657G=]; note the reference sequence has haplotype DPYD*9A Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: McLeod 1998 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - DPDD - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
+?/+? 2 c.85C= r.85c= p.Arg29= DPYD*9B Parent #1 - likely pathogenic g.98348885G= - T85C - DPYD_000000 reference haplotype DPYD*9B [85T>C; 2657G>A]; note the reference sequence has haplotype DPYD*9A Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: McLeod 1998 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - DPDD - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
-?/. 2 c.85C= r.(=) p.Arg29= DPYD*9A Parent #1 - likely benign g.98348885= - T85C - DPYD_000000 normal enzyme activity (PBM cells) Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Johnson 2002 - - Unknown - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Johnson 2002 husband of 11895907-FamPatII5 M no United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.85C= r.85c= p.Arg29= - Both (homozygous) - pathogenic g.98348885= - T85C - DPYD_000000 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Vreken 1997 - - Unknown yes - - 0 - DNA, RNA RT-PCR, SEQ - - DPDD - PubMed: Vreken 1997 - M ? Netherlands - - 0 - - 1 Johan den Dunnen
+?/. 2 c.85C= - p.Arg29= - Unknown - NA g.98348885= - - - DPYD_000000 expression cloning DPD activity 0.40 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Vreken 1997 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 2 c.85C>T r.85c>u p.Arg29Cys DPYD*1 Parent #1 - benign g.98348885G>A g.97883329G>A - - DPYD_000011 reference haplotype DPYD*1 [85T=; 2657G=]; note the reference sequence has haplotype DPYD*9A Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: McLeod 1998 - rs1801265 Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - Healthy/Control - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
?/. - c.85C>T r.85c>u p.Arg29Cys - Paternal (confirmed) - VUS g.98348885G>A - - - DPYD_000011 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - DPDD son PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - M - Netherlands - - 0 - - 1 Johan den Dunnen
?/. - c.85C>T r.85c>u p.Arg29Cys - Parent #1 - VUS g.98348885G>A - - - DPYD_000011 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - Germline - - - 0 - DNA SEQ-NG-I - - DPDD mother PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 2-generation family, 3 affected, mother/son/daughter M - Netherlands - - 0 - - 3 Maja Tarailo-Graovac
+/+? 4 c.299_302del r.299_302del p.Phe100Serfs*15 DPYD*7 Parent #1 - pathogenic g.98205971_98205974del g.97740415_97740418del delTCAT295-298 - DPYD_000009 reference haplotype DPYD*7 [299_302del] PubMed: McLeod 1998 - rs72549309 Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - DPDD - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
+/. - c.299_302del r.(?) p.(Phe100SerfsTer15) - Unknown - pathogenic g.98205971_98205974del g.97740415_97740418del DPYD(NM_000110.3):c.299_302delTCAT (p.F100Sfs*15) - DPYD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.465G>A r.(?) p.(Leu155=) - Unknown - likely benign g.98187084C>T g.97721528C>T DPYD(NM_000110.3):c.465G>A (p.L155=) - DPYD_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.484-5C>T r.spl? p.? - Unknown - likely benign g.98165108G>A g.97699552G>A DPYD(NM_000110.3):c.484-5C>T (p.?) - DPYD_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Both (homozygous) - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. 6 c.496A>G r.(?) p.(Met166Val) - Parent #2 - likely benign g.98165091T>C g.97699535T>C A496G (M166V) - DPYD_000002 normal enzyme activity (PBM cells) PubMed: Johnson 2002 - - Unknown - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Johnson 2002 husband of 11895907-FamPatII5 M no United States - - 0 - - 1 Johan den Dunnen
-?/. 6 c.496A>G r.(?) p.(Met166Val) - Paternal (confirmed) - likely benign g.98165091T>C g.97699535T>C M166V - DPYD_000002 - PubMed: Johnson 2002 - - Germline no - - 0 - DNA SEQ - - DPDD - PubMed: Johnson 2002 daugther of 11895907-FamPatII5/II6 F no United States - - 0 - - 1 Johan den Dunnen
-?/. 6 c.496A>G r.(?) p.(Met166Val) - Maternal (confirmed) - likely benign g.98165091T>C g.97699535T>C M166V - DPYD_000002 normal enzyme activity (PBM cells) PubMed: Johnson 2002 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Johnson 2002 3 children of 11895907-FamPatIII6/III7 (F, 2M) - no United States - - 0 - - 3 Johan den Dunnen
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - PubMed: Bell 2011 - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 JPT/HAN‐HapMap sample F - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.496A>G r.(?) p.(Met166Val) - Unknown - benign g.98165091T>C g.97699535T>C DPYD(NM_000110.3):c.496A>G (p.M166V) - DPYD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.496A>G r.496a>g p.Met166Val - Paternal (inferred) - benign g.98165091T>C g.97699535T>C - - DPYD_000002 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - DPDD son PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - M - Netherlands - - 0 - - 1 Johan den Dunnen
?/. - c.557A>G r.(?) p.(Tyr186Cys) - Unknown - VUS g.98165030T>C g.97699474T>C - - DPYD_000005 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.557A>G r.(?) p.(Tyr186Cys) - Unknown - VUS g.98165030T>C g.97699474T>C DPYD(NM_000110.3):c.557A>G (p.Y186C) - DPYD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.557A>G r.(?) p.(Tyr186Cys) - Unknown - likely benign g.98165030T>C g.97699474T>C DPYD(NM_000110.3):c.557A>G (p.Y186C) - DPYD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 7 c.703C>T r.703c>u p.Arg235Trp DPYD*8 Parent #1 - likely pathogenic g.98157332G>A g.97691776G>A C703T - DPYD_000010 reference haplotype DPYD*8 [703C>T] PubMed: McLeod 1998 - rs1801266 Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - DPDD - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
?/. - c.731A>C r.(?) p.(Glu244Ala) - Unknown - VUS g.98157304T>G g.97691748T>G DPYD(NM_000110.3):c.731A>C (p.E244A) - DPYD_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.768T>G r.(?) p.(Ile256Met) - Unknown - VUS g.98144733A>C g.97679177A>C DPYD(NM_000110.3):c.768T>G (p.(Ile256Met)) - DPYD_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.775A>G r.(?) p.(Lys259Glu) - Unknown - benign g.98144726T>C g.97679170T>C DPYD(NM_000110.3):c.775A>G (p.K259E) - DPYD_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.775A>G r.(?) p.(Lys259Glu) - Unknown - VUS g.98144726T>C g.97679170T>C DPYD(NM_000110.3):c.775A>G (p.K259E) - DPYD_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.775A>G r.(?) p.(Lys259Glu) - Parent #1 - likely benign g.98144726T>C g.97679170T>C - - DPYD_000043 21 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45589337 Germline - 21/2773 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 21 Mohammed Faruq
?/. 10 c.1003G>T r.1003g>u p.Val335Leu DPYD*11 Parent #1 - VUS g.98058899C>A g.97593343C>A G1003T (V335L) - DPYD_000013 reference haplotype DPYD*11 [1003G>T] PubMed: Mattison 2002 - rs72549306 Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - - - PubMed: Mattison 2002 reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
-/. - c.1129-15T>C r.(=) p.(=) - Unknown - benign g.98039541A>G g.97573985A>G DPYD(NM_000110.3):c.1129-15T>C - DPYD_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1140T>C r.(?) p.(Ala380=) - Unknown - likely benign g.98039515A>G g.97573959A>G DPYD(NM_000110.3):c.1140T>C (p.A380=) - DPYD_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.1156G>T r.1156g>u p.Glu386* DPYD*12 Parent #1 - pathogenic g.98039499C>A g.97573943C>A G1156T (E386X) - DPYD_000015 reference haplotype DPYD*12 [62G>A; 1156G>T] PubMed: Mattison 2002 - rs78060119 Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - - - PubMed: Mattison 2002 reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
?/. - c.1210G>T r.(?) p.(Val404Phe) - Unknown - VUS g.98039445C>A g.97573889C>A DPYD(NM_000110.3):c.1210G>T (p.V404F) - DPYD_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1217T>C r.(?) p.(Met406Thr) - Unknown - VUS g.98039438A>G g.97573882A>G DPYD(NM_000110.3):c.1217T>C (p.M406T) - DPYD_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.1236G>A r.spl? p.(Glu412=) - Parent #1 - pathogenic g.98039419C>T g.97573863C>T Glu412Glu - DPYD_000019 reference haplotype; decreased activity - - rs56038477 Germline - - - 0 - DNA SEQ - - DMB-p - reference haplotype - - - - - - 0 - - 1 Johan den Dunnen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA Parent #1 - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 13008 IP3 project, submitted - F no Netherlands white - 0 - - 1 Jesse Swen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA Parent #1 - benign (!)  g.98039419C>T g.97573863C>T - - DPYD_000019 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 25013 IP3 project, submitted - F no Netherlands white - 0 - - 1 Jesse Swen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA Parent #1 - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6002 IP3 project, submitted - M no Netherlands white - 0 - - 1 Jesse Swen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA Parent #1 - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 5004 IP3 project, submitted - F no Netherlands white - 0 - - 1 Jesse Swen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA Parent #1 - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 3029 IP3 project, submitted - M no Netherlands white - 0 - - 1 Jesse Swen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA Parent #1 - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 41005 IP3 project, submitted - F no Netherlands white - 0 - - 1 Jesse Swen
+/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA Parent #1 - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 5003 IP3 project, submitted - M no Netherlands white - 0 - - 1 Jesse Swen
+/. 11 c.1236G>A r.(=) p.(Glu412=) - Parent #1 - benign (!) g.98039419C>T g.97573863C>T E412E - DPYD_000019 DPD enzyme activity 0.80 (large variation); for carriers suggested initial fluoropyrimidine drug dose reduction by 0.5050%, followed by close monitoring and individual dose titration PubMed: Henricks 2018 - rs56038477 SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 11 c.1236G>A r.(=) p.(=) - Parent #1 - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 - PubMed: Henricks 2018 - - Germline - 51/1103 patients - 0 - DNA SEQ - - DMB-i patients PubMed: Henricks 2018 - F;M - Netherlands - - 0 - - 51 Johan den Dunnen
-/. - c.1236G>A r.(=) p.(=) - Parent #1 - benign g.98039419C>T g.97573863C>T - - DPYD_000019 71 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56038477 Germline - 71/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 71 Mohammed Faruq
-/. - c.1236G>A r.(=) p.(=) - Both (homozygous) - benign g.98039419C>T g.97573863C>T - - DPYD_000019 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56038477 Germline - 3/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
+/. - c.1256G>A r.(?) p.(Trp419Ter) - Unknown - pathogenic g.98039399C>T g.97573843C>T DPYD(NM_000110.3):c.1256G>A (p.W419*) - DPYD_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1360A>G r.(?) p.(Ile454Val) - Unknown - likely benign g.98015280T>C - DPYD(NM_000110.3):c.1360A>G (p.I454V) - DPYD_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1475C>T r.(?) p.(Ser492Leu) - Parent #1 - VUS g.98015165G>A g.97549609G>A - - DPYD_000053 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72549304 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.1601G>A r.(?) p.(Ser534Asn) - Unknown - VUS g.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1601G>A r.(?) p.(Ser534Asn) - Unknown - VUS g.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - DNA SEQ-NG - - ABL - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1601G>A r.(?) p.(Ser534Asn) - Unknown - VUS g.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1601G>A r.(?) p.(Ser534Asn) - Unknown - VUS g.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1601G>A r.(?) p.(Ser534Asn) - Unknown - VUS g.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/- 13 c.1601G>A r.1601g>a p.Ser534Asn DPYD*4 Parent #1 - benign g.97981421C>T g.97515865C>T G1601A - DPYD_000003 reference haplotype DPYD*4 [1601G>A] PubMed: McLeod 1998 - rs1801158 Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - Healthy/Control - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
-/. - c.1601G>A r.(?) p.(Ser534Asn) - Unknown - benign g.97981421C>T g.97515865C>T DPYD(NM_000110.3):c.1601G>A (p.S534N) - DPYD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1601G>A r.(?) p.(Ser534Asn) - Unknown - benign g.97981421C>T g.97515865C>T DPYD(NM_000110.3):c.1601G>A (p.S534N) - DPYD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1601G>A r.(?) p.(Ser534Asn) - Parent #1 - VUS g.97981421C>T g.97515865C>T - - DPYD_000003 conflicting interpretations of pathogenicity; 51 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1801158 Germline - 51/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 51 Mohammed Faruq
-/- 13 c.1627A= r.1627a= p.Ile543= DPYD*2A Parent #1 - benign g.97981395T= - - - DPYD_000000 reference haplotype DPYD*2A [1905+1G>A;1627A=] Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: McLeod 1998 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - DMB-up - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
-/. 13 c.1627A= r.(=) p.(Ile543=) DPYD*2A Maternal (confirmed) - benign g.97981395T= - - - DPYD_000000 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Johnson 2002 - - Germline yes - - 0 - DNA SEQ - - DPDD - PubMed: Johnson 2002 son of 11895907-FamPatII5/II6 M no United States - - 0 - - 1 Johan den Dunnen
-/- 13 c.1627A= r.(=) p.(Ile543=) DPYD*2A Parent #2 - benign g.97981395T= - - - DPYD_000000 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Johnson 2002 - - Unknown yes - - 0 - DNA SEQ - - DPDD - PubMed: Diasio 1988, PubMed: Johnson 2002 4-generation family, 1 affected, 4 heterozygous carriers with partial DPDD F no United States - - 0 - - 1 Johan den Dunnen
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1, autism, BMD/DMD, CF, deafness - PubMed: Bell 2011 - M - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1, epilepsy - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1, autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1, ADPKD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ peripheral blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ peripheral blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1627A>G r.(?) p.(Ile543Val) - Unknown - VUS g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »