All variants in the SLC17A5 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
+?/. - c.116G>A r.(?) p.(Arg39His) ACMG likely pathogenic g.74354305C>T g.73644582C>T - - SLC17A5_000017 - PubMed: Trujillano 2017 - - Germline - - - 0 - Daniel Trujillano
+/. - c.116G>A r.(?) p.(Arg39His) ACMG pathogenic g.74354305C>T g.73644582C>T - - SLC17A5_000017 - - - - Germline - - - 0 - Muhammad Umair
+?/. - c.116G>A r.(?) p.(Arg39His) - likely pathogenic (recessive) g.74354305C>T - - - SLC17A5_000017 - - - - De novo - - - - - Alejandro Brea-Fernández
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