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     
+/+ 6 c.802_816del r.802_816del p.Ser268_Asn272del - pathogenic g.74345109_74345123del g.73635386_73635400del 15 base-pair deletion (802–816) in exon 6 - SLC17A5_000011 1 Italian SD patient (het); (previously found only in ISSD patients) PubMed: Biancheri et al. 2002 - - SUMMARY record yes - - - - Anne Polvi
+/. - c.802_816del r.(?) p.(Ser268_Asn272del) - pathogenic g.74345109_74345123del g.73635386_73635400del SLC17A5(NM_012434.4):c.802_816delTCATCATTAAGAAAT (p.S268_N272del) - SLC17A5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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