Full data view for gene SLC6A8

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

17 entries on 1 page. Showing entries 1 - 17.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 8 c.1222_1224del r.(?) p.(Phe408del) Parent #1 - pathogenic g.152959440_152959442del g.153693985_153693987del - - SLC6A8_003082 - - - - Germline - 1222_1224delTTC - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
./. - c.1222_1224del r.(?) p.(Phe408del) Maternal (confirmed) - pathogenic g.152959440_152959442del g.153693985_153693987del SLC6A8 F408del - SLC6A8_003082 - PubMed: Hu 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamP86 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - - - - 2 Johan den Dunnen
+/+ 8 c.1222_1224del r.(?) p.(Phe408del) Maternal (confirmed) - pathogenic (recessive) g.152959440_152959442del g.153693985_153693987del 1222_1224delTTC - SLC6A8_003082 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: degrauw 2002, PubMed: Bizzi 2002 - - Germline - - - - - DNA SEQ - - CCDS1;CDSX - PubMed: Bizzi 2002 - M - Italy - - - - - 1 Gajja Salomons
+/+ 8 c.1222_1224del r.(?) p.(Phe408del) Unknown - pathogenic (recessive) g.152959440_152959442del g.153693985_153693987del 1222_1224delTTC - SLC6A8_003082 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: degrauw 2002, PubMed: Bizzi 2002 - - Germline - - - - - DNA SEQ - - CCDS1;CDSX - PubMed: Bizzi 2002 - F - Italy - - - - - 1 Gajja Salomons
+/+ 8 c.1222_1224del r.(?) p.(Phe408del) Maternal (confirmed) - pathogenic (recessive) g.152959440_152959442del g.153693985_153693987del 1222_1224delTTC - SLC6A8_003082 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: degrauw 2002, PubMed: Bizzi 2002 - - Germline - - - - - DNA SEQ - - CCDS1;CDSX - PubMed: Poo-Arguelles 2006 - M - Spain - - - - - 1 Gajja Salomons
+/+ 8 c.1222_1224del r.(?) p.(Phe408del) Unknown - pathogenic (recessive) g.152959440_152959442del g.153693985_153693987del 1222_1224delTTC - SLC6A8_003082 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: degrauw 2002, PubMed: Bizzi 2002 - - Germline - - - - - DNA SEQ - - CCDS1;CDSX - PubMed: Poo-Arguelles 2006 - F - Spain - - - - - 1 Gajja Salomons
+/+ 8 c.1222_1224del r.(?) p.(Phe408del) Unknown - pathogenic (recessive) g.152959440_152959442del g.153693985_153693987del 1222_1224delTTC - SLC6A8_003082 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: degrauw 2002, PubMed: Bizzi 2002 - - Germline - - - - - DNA SEQ - - CCDS1;CDSX - PubMed: degrauw 2002 - M - United States - - - - - 1 Gajja Salomons
+/+ 8 c.1222_1224del r.(?) p.(Phe408del) Unknown - pathogenic (recessive) g.152959440_152959442del g.153693985_153693987del 1222_1224delTTC - SLC6A8_003082 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: degrauw 2002, PubMed: Bizzi 2002 - - Germline - - - - - DNA SEQ - - CCDS1;CDSX - PubMed: degrauw 2002, PubMed: Bizzi 2002 - M - United States - - - - - 1 Gajja Salomons
+/+ 8 c.1222_1224del r.(?) p.(Phe408del) Unknown - pathogenic (recessive) g.152959440_152959442del g.153693985_153693987del 1222_1224delTTC - SLC6A8_003082 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: degrauw 2002, PubMed: Bizzi 2002 - - Germline - - - - - DNA SEQ - - CCDS1;CDSX - PubMed: degrauw 2002, PubMed: Bizzi 2002 - M - Portugal - - - - - 1 Gajja Salomons
+/+ 8 c.1222_1224del r.(?) p.(Phe408del) Unknown - pathogenic (recessive) g.152959440_152959442del g.153693985_153693987del 1222_1224delTTC - SLC6A8_003082 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: degrauw 2002, PubMed: Bizzi 2002 - - Germline - - - - - DNA SEQ - - CCDS1;CDSX - PubMed: degrauw 2002, PubMed: Bizzi 2002 - M - Netherlands - - - - - 1 Gajja Salomons
+/+ 8 c.1222_1224del r.(?) p.(Phe408del) Maternal (confirmed) - pathogenic (recessive) g.152959440_152959442del g.153693985_153693987del 1222_1224delTTC - SLC6A8_003082 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: degrauw 2002, PubMed: Bizzi 2002 - - Germline - - - - - DNA SEQ - - CCDS1;CDSX - PubMed: degrauw 2002, PubMed: Bizzi 2002 - M - Estonia - - - - - 1 Gajja Salomons
+/+ 8 c.1222_1224del r.(?) p.(Phe408del) Unknown - pathogenic (recessive) g.152959440_152959442del g.153693985_153693987del 1222_1224delTTC - SLC6A8_003082 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: degrauw 2002, PubMed: Bizzi 2002 - - Germline - - - - - DNA SEQ - - CCDS1;CDSX - PubMed: degrauw 2002, PubMed: Bizzi 2002 - F - Estonia - - - - - 1 Gajja Salomons
+/+ 8 c.1222_1224del r.(?) p.(Phe408del) Unknown - pathogenic (recessive) g.152959440_152959442del g.153693985_153693987del 1222_1224delTTC - SLC6A8_003082 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: degrauw 2002, PubMed: Bizzi 2002 - - Germline - - - - - DNA SEQ - - CCDS1;CDSX - PubMed: Bizzi 2002 - M - - - - - - - 1 Gajja Salomons
+/+ 8 c.1222_1224del r.(?) p.(Phe408del) Unknown - pathogenic (recessive) g.152959440_152959442del g.153693985_153693987del 1222_1224delTTC - SLC6A8_003082 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: degrauw 2002, PubMed: Bizzi 2002 - - Germline - - - - - DNA SEQ - - CCDS1;CDSX - PubMed: degrauw 2002, PubMed: Bizzi 2002 - M - Belgium - - - - - 1 Gajja Salomons
+/+ 8 c.1222_1224del r.(?) p.(Phe408del) Maternal (confirmed) - pathogenic (recessive) g.152959440_152959442del g.153693985_153693987del 1222_1224delTTC - SLC6A8_003082 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: degrauw 2002, PubMed: Bizzi 2002 - - Germline - - - - - DNA SEQ - - CCDS1;CDSX - PubMed: Bizzi 2002 - M - Australia - - - - - 1 Gajja Salomons
+/+ 8 c.1222_1224del r.(?) p.(Phe408del) Unknown - pathogenic (recessive) g.152959440_152959442del g.153693985_153693987del 1222_1224delTTC - SLC6A8_003082 variant detected de novo in at least one patient with SLC6A8 deficiency. PubMed: degrauw 2002, PubMed: Bizzi 2002 - - Somatic - - - - - DNA SEQ - - CCDS1;CDSX - PubMed: Bizzi 2002 - F - Australia - - - - - 1 Gajja Salomons
+/. - c.1222_1224del r.(?) p.(Phe408del) Unknown - pathogenic g.152959440_152959442del g.153693985_153693987del SLC6A8(NM_005629.4):c.1222_1224delTTC (p.F408del) - SLC6A8_003082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.