Unique variants in the UPRT gene

Information The variants shown are described using the NM_145052.3 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.68C>T r.(?) p.(Thr23Ile) - likely benign g.74494157C>T - UPRT(NM_001307944.1):c.68C>T (p.T23I) - UPRT_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.138G>C r.(?) p.(Arg46Ser) - 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 - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.215C>T r.(?) p.(Ser72Phe) - likely benign, VUS 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 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 2 - c.381T>G r.(?) p.(=) - VUS g.74494470T>G g.75274635T>G - - UPRT_000001 - - - - Germline - - - - - Yu Sun
?/. 2 - c.386+8A>G r.(=) p.(=) - VUS g.74494483A>G g.75274648A>G - - UPRT_000004 - - - - Germline - - - - - Yu Sun
?/. 2 - c.386+172_386+177del r.(=) p.(=) - VUS g.74494647_74494652del g.75274812_75274817del - - UPRT_000007 - - - - Germline - - - - - Yu Sun
?/. 2 - c.430-220A>G r.(=) p.(=) - VUS g.74515957A>G g.75296122A>G - - UPRT_000009 - - - - Germline - - - - - Yu Sun
?/. 1 - c.483G>A r.(?) p.(Met161Ile) - VUS g.74516230G>A g.75296395G>A - - UPRT_000020 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 2 - c.*21A>G r.(=) p.(=) - VUS g.74523367A>G g.75303532A>G - - UPRT_000011 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*525G>A r.(=) p.(=) - VUS g.74523871G>A g.75304036G>A - - UPRT_000014 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*934C>A r.(=) p.(=) - VUS g.74524280C>A g.75304445C>A - - UPRT_000017 - - - - Germline - - - - - Yu Sun
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