All variants in the UPRT gene

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

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     
?/. - c.215C>T r.(?) p.(Ser72Phe) - VUS g.74494304C>T g.75274469C>T - - UPRT_000019 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.215C>T r.(?) p.(Ser72Phe) - 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 - - - - - VKGL-NL_Leiden
-?/. - c.215C>T r.(?) p.(Ser72Phe) - 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 - - - - - VKGL-NL_Rotterdam
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