All transcript variants in gene SLC5A1

Information The variants shown are described using the NM_000343.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.1012C>G VUS r.(?) p.(Leu338Val) g.32481013C>G - SLC5A1:c.1012C>G (L338V) - SLC5A1_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1130-9C>T likely benign r.(=) p.(=) g.32487590C>T - SLC5A1:c.1130-9C>T - SLC5A1_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
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