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     
+/+ 3 c.406A>G r.406a>g p.Lys136Glu - pathogenic g.74351533T>C g.73641810T>C 406A>G, K136E - SLC17A5_000007 1 Finnish SD patient (com-het), 1 Italian SD patient (hom) PubMed: Aula et al. 2000, PubMed: Biancheri et al. 2005 - rs80338795 SUMMARY record yes - - - - Anne Polvi
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