All variants in the SLC17A5 gene

Information The variants shown are described using the NM_012434.4 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     
+/+ 2i_4i c.293_613+1del r.292_613del p.(Gly98Glufs*7) - pathogenic g.74348137_74351649del g.73638414_73641926del 292–611del:deletion of exons 3-4 - SLC17A5_000005 1 German SD patient (com-het) PubMed: Aula et al. 2000 - - SUMMARY record yes - - - - Anne Polvi
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