All variants in the SLC17A5 gene

Information The variants shown are described using the NM_012434.4 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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     
+?/+? 8 c.983G>A r.983g>a p.Gly328Glu - likely pathogenic g.74325166C>T g.73615443C>T 983G>A nucleotide change in exon 8 - SLC17A5_000012 1 Bedouin SD family (hom) PubMed: Landau et al. 2004 - - SUMMARY record yes 0/50 BED CON - - - Anne Polvi
Legend   How to query