All variants in the SLC6A8 gene

Information The variants shown are described using the NM_005629.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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     
-/. 5 c.813C>T r.(=) p.(=) - benign g.152958531C>T g.153693076C>T - - SLC6A8_003041 - - - - Germline - - - 0 - Andreas Laner
-?/. - c.813C>T r.(?) p.(Val271=) - likely benign g.152958531C>T g.153693076C>T SLC6A8(NM_005629.3):c.813C>T (p.V271=), SLC6A8(NM_005629.4):c.813C>T (p.V271=) - SLC6A8_003041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/- 5 c.813C>T r.(?) p.(=) - benign g.152958531C>T g.153693076C>T - - SLC6A8_003041 Detected in control(s). No effect predicted by 5 splice predictors, 2/1900 MR patients PubMed: Clark 2006, PubMed: Betsalel 2010 - - Germline - 4/617 controls AvaII 0 - Gajja Salomons
-?/. - c.813C>T r.(?) p.(Val271=) - likely benign g.152958531C>T g.153693076C>T SLC6A8(NM_005629.3):c.813C>T (p.V271=), SLC6A8(NM_005629.4):c.813C>T (p.V271=) - SLC6A8_003041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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