All variants in the SLC17A5 gene

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

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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.738_741del r.(?) p.(Ser249Thrfs*21) - likely pathogenic (recessive) g.74345183_74345186del g.73635460_73635463del NM_012434.4:c.744_747del:p.(Ser249Thrfs*21) - SLC17A5_000044 - PubMed: Maddirevula 2018 - - Germline - - - 0 - LOVD
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