All variants in the SLC17A5 gene

Information The variants shown are described using the NM_012434.4 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     
+/+ 6 c.719G>A r.719g>a p.Trp240* - pathogenic g.74345205C>T g.73635482C>T 719G>A, W240X - SLC17A5_000010 1 Finnish SD patient (com-het) PubMed: Aula et al. 2000 - - SUMMARY record yes - - - - Anne Polvi
+/. - c.719G>A r.(?) p.(Trp240Ter) - pathogenic g.74345205C>T g.73635482C>T SLC17A5(NM_012434.4):c.719G>A (p.W240*) - SLC17A5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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