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.899C>T r.(?) p.(Ser300Phe) - VUS g.74331606G>A g.73621883G>A SLC17A5(NM_012434.4):c.899C>T (p.S300F, p.(Ser300Phe)) - SLC17A5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.899C>T r.(?) p.(Ser300Phe) - VUS g.74331606G>A g.73621883G>A SLC17A5(NM_012434.4):c.899C>T (p.S300F, p.(Ser300Phe)) - SLC17A5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.899C>T r.(?) p.(Ser300Phe) - likely benign g.74331606G>A - SLC17A5(NM_012434.4):c.899C>T (p.S300F, p.(Ser300Phe)) - SLC17A5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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