Unique variants in the SLC17A5 gene

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

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Reported     

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     
+/+ 1 2 c.115C>T r.115c>t p.Arg39Cys - pathogenic g.74354306G>A g.73644583G>A R39C, in loop before TM domain 1 - SLC17A5_000002 1 more item 1 more item - rs80338794 SUMMARY record yes 0/100 FIN CON - - - Anne Polvi
+/+ 1 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
+/+ 1 3 c.507del r.507dela p.(Leu170*) - pathogenic g.74351432del g.73641709del del 507A - SLC17A5_000008 1 Finnish SD patient (com-het) PubMed: Linnakivi et al. 2003 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 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 1 more item PubMed: Varho et al. 2002, PubMed: Aula et al. 2000 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 6 c.719G>A r.719g>a p.Trp240* - pathogenic g.74345205C>T g.73635482C>T 719G>A, W240X - SLC17A5_000010 1 Finnish SD patient (com-het) PubMed: Aula et al. 2000 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 8 c.1007_1008del r.1007_1008delta p.Leu336Trpfs*14 - pathogenic g.74325141_74325142del g.73615418_73615419del 2-base pair deletion (1007-1008) - SLC17A5_000013 5 Finnish SD patients (com-het) and 1 Swedish SD patient (com-het) PubMed: Aula et al. 2000, PubMed: Varho et al. 2002 - - SUMMARY record yes - - - - Anne Polvi
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