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     
+/+ 1i c.263-1G>C r.263_325del p.Gly88_Leu108del - pathogenic (recessive) g.152955829G>C g.153690374G>C - - SLC6A8_003014 This mutation has been detected de novo in at least one patient with SLC6A8 deficiency. cDNA analysis revealed splice error. 5 out of 5 splice predictors predict the complete loss of the splice site. PubMed: Betsalel 2010 - - De novo - - - 0 - Gajja Salomons
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