All variants in the SLC6A8 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
-/- 1 c.11A>G r.(?) p.(Lys4Arg) - benign g.152954040A>G g.153688585A>G - - SLC6A8_003003 proven non-pathogenic variant; 1/1900 MR patients PubMed: Clark 2006, PubMed: Rosenberg 2007 - - Germline - 0/628 controls SacI 0 - Gajja Salomons
-/- 1 c.11A>G r.(?) p.Lys4Arg - NA g.152954040A>G g.153688585A>G - - SLC6A8_003003 overexpression in SLC6A8 deficient fibroblasts restored creatine uptake PubMed: Rosenberg 2007 - - In vitro (cloned) - - - 0 - Gajja Salomons
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