All variants in the SLC6A8 gene

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

14 entries on 1 page. Showing entries 1 - 14.
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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     
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.(Phe107del) - pathogenic (recessive) g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 proven pathogenic variant PubMed: degrauw 2002, PubMed: Rosenberg 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.321_323del r.(?) p.Phe107del - NA g.152955888_152955890del g.153690433_153690435del 319_321delCTT - SLC6A8_003018 overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake PubMed: Rosenberg 2007 - - In vitro (cloned) - - - 0 - Gajja Salomons
+/. - c.321_323del r.(?) p.(Phe107del) - pathogenic g.152955888_152955890del g.153690433_153690435del 316_318del - SLC6A8_003018 - PubMed: Zhu 2015 - - De novo - - - 0 - Johan den Dunnen
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