Full data view for gene SLC6A8

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     

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AscendingDNA change (cDNA)     

RNA change     

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DNA change (genomic) (hg19)     

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ClinVar ID     

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+/. 6 c.1006_1008del r.(?) p.(Asn336del) Parent #1 - pathogenic g.152958811_152958813del g.153693356_153693358del - - SLC6A8_003051 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.1006_1008del r.(?) p.(Asn336del) Maternal (confirmed) - pathogenic g.152958811_152958813del g.153693356_153693358del 1005_1007delCAA - SLC6A8_003051 - PubMed: Schuurs-Hoeijmakers 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ID 24123876-FamW10-2749 PubMed: Schuurs-Hoeijmakers 2013 2-generation family, 3 affected males, unaffected carrier mother M no Netherlands - - - - - 3 Johan den Dunnen
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) Unknown - 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 - - - DNA SEQ - - CCDS1;CDSX - PubMed: Clark 2006 - M - United States - - - - - 1 Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) Maternal (confirmed) - 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 - - - DNA SEQ - - CCDS1;CDSX - PubMed: Clark 2006, PubMed: Rosenberg 2007 - M - - - - - - - 1 Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) Unknown - 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 - - - DNA SEQ - - CCDS1;CDSX - PubMed: Clark 2006, PubMed: Rosenberg 2007 - F - - - - - - - 1 Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) Unknown - 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 - - - DNA SEQ - - CCDS1;CDSX - PubMed: Clark 2006, PubMed: Rosenberg 2007 - M - Norway - - - - - 1 Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) Maternal (confirmed) - 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 - - - DNA SEQ - - CCDS1;CDSX - PubMed: Clark 2006, PubMed: Rosenberg 2007 - M - France - - - - - 1 Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) Unknown - 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 - - - DNA SEQ - - CCDS1;CDSX - PubMed: Clark 2006, PubMed: Rosenberg 2007 - F - - - - - - - 1 Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) Unknown - 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 - - - DNA SEQ - - CCDS1;CDSX - PubMed: Battini 2007 - M - Italy - - - - - 1 Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) Maternal (confirmed) - 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 - - - DNA SEQ - - CCDS1;CDSX - PubMed: Clark 2006, PubMed: Rosenberg 2007 - M - - - - - - - 1 Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) Unknown - 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 - - - DNA SEQ - - CCDS1;CDSX - PubMed: Clark 2006, PubMed: Rosenberg 2007 - F - - - - - - - 1 Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) Maternal (confirmed) - 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 - - - DNA SEQ - - CCDS1;CDSX - PubMed: Clark 2006, PubMed: Rosenberg 2007 - F - - - - - - - 1 Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) Maternal (confirmed) - 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 - - - DNA SEQ - - CCDS1;CDSX - PubMed: Clark 2006, PubMed: Rosenberg 2007 - M - - - - - - - 1 Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) Maternal (confirmed) - 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 - - - DNA SEQ - - CCDS1;CDSX - PubMed: Clark 2006, PubMed: Rosenberg 2007 - M - - - - - - - 1 Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) Maternal (confirmed) - 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 - - - DNA SEQ - - CCDS1;CDSX - PubMed: Clark 2006, PubMed: Rosenberg 2007 - F - - - - - - - 1 Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) Maternal (confirmed) - 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 - - - DNA SEQ - - CCDS1;CDSX - PubMed: Clark 2006, PubMed: Rosenberg 2007 - M - - - - - - - 1 Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) Unknown - 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 - - - DNA SEQ - - CCDS1;CDSX - PubMed: Clark 2006, PubMed: Rosenberg 2007 - F - - - - - - - 1 Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) Unknown - 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 - - - DNA SEQ - - CCDS1;CDSX - PubMed: Clark 2006, PubMed: Rosenberg 2007 - M - - - - - - - 1 Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) Unknown - 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 - - - DNA SEQ - - CCDS1;CDSX - PubMed: Clark 2006, PubMed: Rosenberg 2007 - M - Spain - - - - - 1 Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) Maternal (confirmed) - 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 - - - DNA SEQ - - CCDS1;CDSX - PubMed: Clark 2006 - M - Netherlands - - - - - 1 Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) Maternal (confirmed) - 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 - - - DNA SEQ - - CCDS1;CDSX - PubMed: Clark 2006 - M - Netherlands - - - - - 1 Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.(Asn336del) Unknown - 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 - - - DNA SEQ - - CCDS1;CDSX - PubMed: Clark 2006 - M - Netherlands - - - - - 1 Gajja Salomons
+/+ 6 c.1006_1008del r.(?) p.Asn336del Unknown - 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) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1006_1008del r.(?) p.(Asn336del) Unknown - pathogenic g.152958811_152958813del g.153693356_153693358del SLC6A8(NM_005629.4):c.1006_1008delAAC (p.N336del) - SLC6A8_003051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1006_1008del r.(?) p.(Asn336del) Unknown - pathogenic g.152958811_152958813del - SLC6A8(NM_005629.4):c.1006_1008delAAC (p.N336del) - SLC6A8_003051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1006_1008del r.(?) p.(Asn336del) Unknown - pathogenic g.152958811_152958813del - - - SLC6A8_003051 - - - rs782433037 Unknown - - - - - - - - - - - - - - - - - - - - - - -
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