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.500T>C r.(?) p.(Leu167Pro) - likely pathogenic g.74351439A>G g.73641716A>G - - SLC17A5_000015 1 Spanish patient (com-het) with SD PubMed: Couce et al. 2014 - - SUMMARY record yes - - 0 - Anne Polvi
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