Full data view for gene UPRT

Information The variants shown are described using the NM_145052.3 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.68C>T r.(?) p.(Thr23Ile) Unknown - likely benign g.74494157C>T - UPRT(NM_001307944.1):c.68C>T (p.T23I) - UPRT_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.138G>C r.(?) p.(Arg46Ser) Unknown - likely benign g.74494227G>C g.75274392G>C UPRT(NM_001307944.1):c.138G>C (p.R46S) - UPRT_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.215C>T r.(?) p.(Ser72Phe) Parent #1 - VUS g.74494304C>T g.75274469C>T - - UPRT_000019 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.215C>T r.(?) p.(Ser72Phe) Unknown - likely benign g.74494304C>T g.75274469C>T UPRT(NM_001307944.1):c.215C>T (p.S72F), UPRT(NM_145052.3):c.215C>T (p.(Ser72Phe)) - UPRT_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.215C>T r.(?) p.(Ser72Phe) Unknown - likely benign g.74494304C>T g.75274469C>T UPRT(NM_001307944.1):c.215C>T (p.S72F), UPRT(NM_145052.3):c.215C>T (p.(Ser72Phe)) - UPRT_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.381T>G r.(?) p.(=) Maternal (inferred) - VUS g.74494470T>G g.75274635T>G - - UPRT_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.381T>G r.(?) p.(=) Maternal (inferred) - VUS g.74494470T>G g.75274635T>G - - UPRT_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.386+8A>G r.(=) p.(=) Maternal (inferred) - VUS g.74494483A>G g.75274648A>G - - UPRT_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.386+8A>G r.(=) p.(=) Maternal (inferred) - VUS g.74494483A>G g.75274648A>G - - UPRT_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.386+172_386+177del r.(=) p.(=) Maternal (inferred) - VUS g.74494647_74494652del g.75274812_75274817del - - UPRT_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.386+172_386+177del r.(=) p.(=) Unknown - VUS g.74494647_74494652del g.75274812_75274817del - - UPRT_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.430-220A>G r.(=) p.(=) Maternal (inferred) - VUS g.74515957A>G g.75296122A>G - - UPRT_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.430-220A>G r.(=) p.(=) Maternal (inferred) - VUS g.74515957A>G g.75296122A>G - - UPRT_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.483G>A r.(?) p.(Met161Ile) Parent #1 - VUS g.74516230G>A g.75296395G>A - - UPRT_000020 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.*21A>G r.(=) p.(=) Maternal (inferred) - VUS g.74523367A>G g.75303532A>G - - UPRT_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*21A>G r.(=) p.(=) Maternal (inferred) - VUS g.74523367A>G g.75303532A>G - - UPRT_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*525G>A r.(=) p.(=) Maternal (inferred) - VUS g.74523871G>A g.75304036G>A - - UPRT_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*525G>A r.(=) p.(=) Maternal (inferred) - VUS g.74523871G>A g.75304036G>A - - UPRT_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*934C>A r.(=) p.(=) Maternal (inferred) - VUS g.74524280C>A g.75304445C>A - - UPRT_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*934C>A r.(=) p.(=) Maternal (inferred) - VUS g.74524280C>A g.75304445C>A - - UPRT_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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