All variants in the UPRT gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.386+172_386+177del r.(=) p.(=) - VUS g.74494647_74494652del g.75274812_75274817del - - UPRT_000007 - - - - Germline - - - - - Yu Sun
?/. - c.386+172_386+177del r.(=) p.(=) - VUS g.74494647_74494652del g.75274812_75274817del - - UPRT_000007 - - - - Germline - - - - - Yu Sun
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