Full data view for gene UGP2

Information The variants shown are described using the NM_006759.3 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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.34A>G r.(?) p.(Met12Val) Unknown - VUS g.64083454A>G g.63856320A>G UGP2(NM_001001521.1):c.1A>G (p.M1?) - UGP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.34A>G r.(?) p.(Met12Val) Unknown - likely pathogenic g.64083454A>G g.63856320A>G UGP2(NM_001001521.1):c.1A>G (p.M1?) - UGP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.34A>G r.(?) p.(Met12Val) Both (homozygous) - pathogenic (recessive) g.64083454A>G g.63856320A>G NM_001001521.1:c.1A>G (p.0?) - UGP2_000002 - PubMed: Perenthaler 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES EIEE Fam1 PubMed: Perenthaler 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.34A>G r.(?) p.(Met12Val) Both (homozygous) - pathogenic (recessive) g.64083454A>G g.63856320A>G NM_001001521.1:c.1A>G (p.0?) - UGP2_000002 - PubMed: Perenthaler 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES EIEE Fam2 PubMed: Perenthaler 2020 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Canada India - - - - 2 Johan den Dunnen
+/. - c.34A>G r.(?) p.(Met12Val) Both (homozygous) - pathogenic (recessive) g.64083454A>G g.63856320A>G NM_001001521.1:c.1A>G (p.0?) - UGP2_000002 - PubMed: Perenthaler 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES EIEE Fam3 PubMed: Perenthaler 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States India - - - - 1 Johan den Dunnen
+/. - c.34A>G r.(?) p.(Met12Val) Both (homozygous) - pathogenic (recessive) g.64083454A>G g.63856320A>G NM_001001521.1:c.1A>G (p.0?) - UGP2_000002 - PubMed: Perenthaler 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES EIEE Fam4 PubMed: Perenthaler 2020 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Oman Pakistan - - - - 2 Johan den Dunnen
+/. - c.34A>G r.(?) p.(Met12Val) Both (homozygous) - pathogenic (recessive) g.64083454A>G g.63856320A>G NM_001001521.1:c.1A>G (p.0?) - UGP2_000002 - PubMed: Perenthaler 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES EIEE Fam5 PubMed: Perenthaler 2020 2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - 2 Johan den Dunnen
+/. - c.34A>G r.(?) p.(Met12Val) Both (homozygous) - pathogenic (recessive) g.64083454A>G g.63856320A>G NM_001001521.1:c.1A>G (p.0?) - UGP2_000002 - PubMed: Perenthaler 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES EIEE Fam6 PubMed: Perenthaler 2020 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Iran - - - - - 2 Johan den Dunnen
+/. - c.34A>G r.(?) p.(Met12Val) Both (homozygous) - pathogenic (recessive) g.64083454A>G g.63856320A>G NM_001001521.1:c.1A>G (p.0?) - UGP2_000002 - PubMed: Perenthaler 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES EIEE Fam7 PubMed: Perenthaler 2020 2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents F;M yes Iran - - - - - 2 Johan den Dunnen
+/. - c.34A>G r.(?) p.(Met12Val) Both (homozygous) - pathogenic (recessive) g.64083454A>G g.63856320A>G NM_001001521.1:c.1A>G (p.0?) - UGP2_000002 - PubMed: Perenthaler 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES EIEE Fam8 PubMed: Perenthaler 2020 2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents F;M yes Iran - - - - - 2 Johan den Dunnen
+/. - c.34A>G r.(?) p.(Met12Val) Both (homozygous) - pathogenic (recessive) g.64083454A>G g.63856320A>G NM_001001521.1:c.1A>G (p.0?) - UGP2_000002 - PubMed: Perenthaler 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES EIEE Fam9 PubMed: Perenthaler 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.34A>G r.(?) p.(Met12Val) Both (homozygous) - pathogenic (recessive) g.64083454A>G g.63856320A>G NM_001001521.1:c.1A>G (p.0?) - UGP2_000002 - PubMed: Perenthaler 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES EIEE Fam10 PubMed: Perenthaler 2020 2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents F;M yes Saudi Arabia - - - - - 2 Johan den Dunnen
+/. - c.34A>G r.(?) p.(Met12Val) Both (homozygous) - pathogenic (recessive) g.64083454A>G g.63856320A>G NM_001001521.1:c.1A>G (p.0?) - UGP2_000002 - PubMed: Perenthaler 2020 - - Germline - - - - - DNA SEQ - - EIEE Fam11 PubMed: Perenthaler 2020 5-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents F;M yes Iran - - - - - 5 Johan den Dunnen
+/. - c.34A>G r.(?) p.(Met12Val) Both (homozygous) - pathogenic (recessive) g.64083454A>G g.63856320A>G NM_001001521.1:c.1A>G (p.0?) - UGP2_000002 - PubMed: Perenthaler 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES EIEE Fam12 PubMed: Perenthaler 2020 2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents F;M - India - - - - - 2 Johan den Dunnen
+/. - c.34A>G r.(?) p.(Met12Val) Both (homozygous) - pathogenic (recessive) g.64083454A>G g.63856320A>G NM_001001521.1:c.1A>G (p.0?) - UGP2_000002 - PubMed: Perenthaler 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES EIEE Fam13 PubMed: Perenthaler 2020 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - 3 Johan den Dunnen
+?/. - c.34A>G r.(?) p.(Met12Val) Both (homozygous) - likely pathogenic (recessive) g.64083454A>G g.63856320A>G NM_001001521.2:c.1A>G (Met1Val) - UGP2_000002 - PubMed: Al-Kasbi 2022 VCV000805980.8 rs768305634 Germline - - - - - DNA SEQ, SEQ-NG - WES ID 11MS2000 PubMed: Al-Kasbi 2022 patient, other affecteds in family F - Oman - - - - - 1 Johan den Dunnen
+?/. 2 c.34A>G r.34A>G p.Met12Val Unknown - likely pathogenic g.64083454A>G g.63856320A>G - - UGP2_000002 no effect on RNA - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG fibroblasts mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
-?/. - c.132A>G r.(?) p.(Ser44=) Unknown - likely benign g.64083552A>G - UGP2(NM_006759.3):c.132A>G (p.S44=) - UGP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.148-284dup r.(=) p.(=) Unknown - likely benign g.64084679dup - UGP2(NM_001377526.1):c.-382-5dup - UGP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1314+3A>G r.spl? p.? Unknown - VUS g.64114781A>G - UGP2(NM_006759.4):c.1314+3A>G - UGP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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