All variants in the SLC6A8 gene

Information The variants shown are described using the NM_005629.3 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     
-?/-? 5 c.780C>T r.(?) p.(=) - likely benign g.152958498C>T g.153693043C>T - - SLC6A8_003039 Effect (4% [1,00 > 0,96; range 0 - 1,00], 32% [0,22 > 0,15; range 0 - 1,00], 20% [3,3 > 2,67; range 0 - 13,00] reduced change) predicted by 3 out of 5 splice predictors. 1/1900 MR patients PubMed: Clark 2006, PubMed: Betsalel 2010 - - Germline - 0/280 controls - 0 - Gajja Salomons
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