Unique variants in gene SLC17A5

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

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. 1 - c.-2451640_*595735del - - - g.73709065_76815249del - - - KHDC3L_000005 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - Germline - - - - - Johan den Dunnen
+/+ 1 1i c.95-1G>C - r.95_291del p.Ala32Glyfs*2 g.74354327C>G - cDNA 95-1G>C: Removes splice site, deletion of exon 2 (95–291del) - SLC17A5_000001 1 Swedish SD patient (com-het) PubMed: Aula et al. 2000 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 2 c.115C>T - r.115c>t p.Arg39Cys g.74354306G>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 - c.116G>A ACMG 4 r.(?) p.(Arg39His) g.74354305C>T - - - SLC17A5_000017 - Trujillano et al., submitted - Germline - - - - - Daniel Trujillano
+/+ 1 2 c.291G>A - r.95_291del p.Ala32Glyfs*2 g.74354130C>T - c291G>A - SLC17A5_000004 1 Caucasian SD patient (com-het) PubMed: Kleta et al. 2001 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 2i_4i c.292_613del - r.292_613del p.(Gly98Glufs*7) g.74348135_74351647del - 292–611del:deletion of exons 3-4 - SLC17A5_000005 1 German SD patient (com-het) PubMed: Aula et al. 2000 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 3 c.309G>A - r.309g>a p.Trp103* g.74351630C>T - 309G>A, W103X - SLC17A5_000006 1 Swedish SD patient (com-het) PubMed: Aula et al. 2000 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 3 c.406A>G - r.406a>g p.Lys136Glu g.74351533T>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.500T>C - r.(?) p.(Leu167Pro) g.74351439A>G - - - SLC17A5_000015 1 Spanish patient (com-het) with SD PubMed: Couce et al. 2014 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 3 c.507delA - r.507dela p.(Leu170*) g.74351432delT - 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 g.74345105_74348221del - 526–819del: del exons 4–6; del (525-818): del exons 4-6 - SLC17A5_000009 4 Finnish SD patients (com-het) 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* g.74345205C>T - 719G>A, W240X - SLC17A5_000010 1 Finnish SD patient (com-het) PubMed: Aula et al. 2000 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 6 c.802_816del - r.802_816del p.Ser268_Asn272del g.74345108_74345122del - 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
+?/+? 1 8 c.918T>G - r.(?) p.(Tyr306*) g.74331587A>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 - - - - Anne Polvi
+?/+? 1 8 c.983G>A - r.983g>a p.Gly328Glu g.74325166C>T - 983G>A nucleotide change in exon 8 - SLC17A5_000012 1 Bedouin SD family (hom) PubMed: Landau et al. 2004 - SUMMARY record yes 0/50 BED CON - - - Anne Polvi
+/+ 1 8 c.1007_1008delTA - r.1007_1008delta p.Leu336Trpfs*14 g.74325141_74325142delTA - 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
+/+ 1 9 c.1138_1139delGT - r.1138_1139delgt p.Val380Serfs*8 g.74320243_74320244delAC - 1138–1139del: Frameshift, 7 novel amino acids, premature stop - SLC17A5_000014 1 British SD family (com-het) PubMed: Aula et al. 2000 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 9 c.1226G>A - r.1226g>a p.Gly409Glu g.74320156C>T - c1226G>A, G409E, alteration of a highly conserved amino acid within a transmembrane region - SLC17A5_000003 1 Caucasian SD patient (com-het) PubMed: Kleta et al. 2001 - SUMMARY record yes - - - - Anne Polvi
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