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.886G>A r.(?) p.(Val296Ile) - likely benign g.74331619C>T g.73621896C>T SLC17A5(NM_012434.4):c.886G>A (p.(Val296Ile)) - SLC17A5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.886G>A r.(?) p.(Val296Ile) - likely benign g.74331619C>T g.73621896C>T - - SLC17A5_000035 109 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16883930 Germline - 109/2795 individuals - 0 - Mohammed Faruq
-?/. - c.886G>A r.(?) p.(Val296Ile) - likely benign g.74331619C>T g.73621896C>T - - SLC17A5_000035 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16883930 Germline - 5/2795 individuals - 0 - Mohammed Faruq
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