All variants in the SLC6A8 gene

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

26 entries on 1 page. Showing entries 1 - 26.
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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     
+/. 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic g.152958811_152958813del g.153693356_153693358del - - SLC6A8_003051 - - - - Germline - - - 0 - Andreas Laner
+/. - c.1006_1008del r.(?) p.(Asn336del) - pathogenic g.152958811_152958813del g.153693356_153693358del 1005_1007delCAA - SLC6A8_003051 - PubMed: Schuurs-Hoeijmakers 2013 - - Germline yes - - 0 - Johan den Dunnen
./. - c.1006_1008del r.(?) p.(Asn336del) - pathogenic g.152958811_152958813del g.153693356_153693358del NM_005629.3:c.1005_1007del (Asn336del) - SLC6A8_003228 - PubMed: de Ligt 2012 - - De novo - - - 0 - Johan den Dunnen
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: Clark 2006 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: Clark 2006 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: Clark 2006 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: Clark 2006 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: Clark 2006 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: Clark 2006 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: Clark 2006 - - De novo - 0/280 controls - 0 - Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: Clark 2006 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: Clark 2006 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: Clark 2006 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: Clark 2006 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: Clark 2006 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: Clark 2006 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: Clark 2006 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: Clark 2006 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: Clark 2006 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: Clark 2006 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: Clark 2006 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: Clark 2006 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) - pathogenic (recessive) g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: Clark 2006 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.Asn336del - NA g.152958811_152958813del g.153693356_153693358del 1006_1008delAAC - SLC6A8_003051 overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake PubMed: Rosenberg 2007 - - In vitro (cloned) - - - 0 - Gajja Salomons
+/. - c.1006_1008del r.(?) p.(Asn336del) - pathogenic g.152958811_152958813del g.153693356_153693358del SLC6A8(NM_005629.3):c.1006_1008delAAC (p.N336del), SLC6A8(NM_005629.4):c.1006_1008delAAC (p.N336del) - SLC6A8_003051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1006_1008del r.(?) p.(Asn336del) - pathogenic g.152958811_152958813del - SLC6A8(NM_005629.3):c.1006_1008delAAC (p.N336del), SLC6A8(NM_005629.4):c.1006_1008delAAC (p.N336del) - SLC6A8_003051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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