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     
+?/+? 9 c.1226G>A r.1226g>a p.Gly409Glu - likely pathogenic g.74320156C>T g.73610433C>T c1226G>A, G409E, alteration of a highly conserved amino acid within a transmembrane region - SLC17A5_000003 1 Caucasian SD patient (com-het) PubMed: Kleta et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
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