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.912G>A r.772_912del p.Ile260_Gln304del - pathogenic (recessive) g.152958630G>A g.153693175G>A - - SLC6A8_003045 cDNA analysis revealed splice error. 5 out of 5 splice predictors predict the complete loss of the splice site. PubMed: Lion-Francois 2006, PubMed: Betsalel 2010 - - Germline - - - 0 - Gajja Salomons
+/+ 5 c.912G>A r.772_912del p.Ile260_Gln304del - pathogenic (recessive) g.152958630G>A g.153693175G>A - - SLC6A8_003045 cDNA analysis revealed splice error. 5 out of 5 splice predictors predict the complete loss of the splice site. PubMed: Lion-Francois 2006, PubMed: Betsalel 2010 - - Germline - - - 0 - Gajja Salomons
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