All variants in the SLC17A5 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+?/+? 8 c.918T>G r.(?) p.(Tyr306*) - likely pathogenic g.74331587A>C g.73621864A>C - - SLC17A5_000016 1 Spanish patient (com-het) with SD, previously found in one French ISSD patient (com-het) PubMed: Couce et al. 2014, PubMed: Aula et al. 2000 - - SUMMARY record yes - - 0 - Anne Polvi
+?/. - c.918T>G r.(?) p.(Tyr306*) - likely pathogenic (recessive) g.74331587A>C - - - SLC17A5_000016 - - - - Germline - - - - - Alejandro Brea-Fernández
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