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     
+/+ 3i_6i c.526_819del r.526_819del p.Gly176_Gln273del - pathogenic g.74345105_74348221del - 526–819del: del exons 4–6; del (525-818): del exons 4-6 - SLC17A5_000009 4 Finnish SD patients (com-het) Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Varho et al. 2002, PubMed: Aula et al. 2000 - - SUMMARY record yes - - - - Anne Polvi
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