Full data view for gene DPYD

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

16 entries on 1 page. Showing entries 1 - 16.
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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     
+?/+? 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 - - - - - - - - - - - - - - - - - - -
-/- 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
-/- 14i c.1905+1G= r.= p.= DPYD*5 Parent #1 - benign g.97915614C= - - - DPYD_000000 reference haplotype DPYD*5 [1905+1G=;1627A>G] 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 - - - - - reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
-/- 14i c.1905+1G= r.= p.= - Parent #1 - benign g.97915614C= - - - DPYD_000000 mixed haplotype DPYD*5/*6; haplotype assignment requested 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. pers. comm. - - Unknown - - - 0 - DNA SEQ - - - private email - - ? ? United States - - 0 - - 1 Johan den Dunnen
-/- 21 c.2657G= r.2657g= p.Arg886= DPYD*1 Parent #1 - benign g.97564154C= - - - DPYD_000000 reference haplotype DPYD*1 [85T=; 2657G=]; note the reference sequence has haplotype DPYD*9A 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 - - Healthy/Control - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
-/- 21 c.2657G= r.2657g= p.Arg886= DPYD*9A Parent #1 - benign g.97564154C= - - - DPYD_000000 reference haplotype DPYD*9A [85T>C; 2657G=]; note the reference sequence has haplotype DPYD*9A 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 - - DPDD - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
-?/. 21 c.2657G= r.(=) p.Arg886= DPYD*9A Parent #1 - likely benign g.97564154C= - - - DPYD_000000 normal enzyme activity (PBM cells) 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 - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Johnson 2002 husband of 11895907-FamPatII5 M no United States - - 0 - - 1 Johan den Dunnen
?/? 21 c.2657G>A - p.Arg886His DPYD*9B Parent #1 - VUS g.97564154C>T g.97098598C>T G2657A - DPYD_000000 reference haplotype DPYD*9B [85T>C; 2657G>A]; note the reference sequence has haplotype DPYD*9A PubMed: McLeod 1998 - rs1801267 Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - DPDD - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
+?/. 21 c.2657G>A r.2657g>a p.Arg886His - Both (homozygous) - likely pathogenic g.97564154C>T g.97098598C>T G2758A (R886H) - DPYD_000000 - PubMed: Vreken 1997 - - Unknown yes - - 0 - DNA, RNA RT-PCR, SEQ - - DPDD - PubMed: Vreken 1997 - M ? Netherlands - - 0 - - 1 Johan den Dunnen
+/. 21 c.2657G>A r.(?) p.Arg886His - Unknown - NA g.97564154C>T g.97098598C>T - - DPYD_000000 expression cloning no detecable DPD activity PubMed: Vreken 1997 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
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