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     
+/+ 2 c.291G>A r.95_291del p.Ala32Glyfs*2 - pathogenic g.74354130C>T g.73644407C>T c291G>A - SLC17A5_000004 1 Caucasian SD patient (com-het) PubMed: Kleta et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
+/. - c.291G>A r.spl? p.(Thr97=) - pathogenic (recessive) g.74354130C>T g.73644407C>T - - SLC17A5_000004 - PubMed: Lionel 2018 - - Germline - - - 0 - Johan den Dunnen
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