All variants in the SLC6A8 gene

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

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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     
-/- 7i c.1142-151_1142-152del r.= p.= - benign g.? - IVS7-151_152delGA - SLC6A8_003074 SLC6A8 cDNA analysis showed no errors. No effect predicted by 5 splice predictors , 2/1900 MR patients PubMed: Betsalel 2010 - - Germline - 0/280 controls - 0 - Gajja Salomons
Legend   How to query