All variants in the SLC29A3 gene

Information The variants shown are described using the NM_018344.5 transcript reference sequence.

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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     
+/? 6 c.1157G>A r.(?) p.Arg386Gln - pathogenic g.73122094G>A g.71362337G>A - - SLC29A3_000015 - - - - Germline - - - 0 - Philippe Campeau
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