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     
+/+ 7 c.1040_1042del r.(?) p.(Ile347del) - pathogenic (recessive) g.152958940_152958942del g.153693485_153693487del 1040_1042delTCA - SLC6A8_003058 proven pathogenic variant PubMed: Clark 2006, PubMed: Rosenberg 2007 - - Germline - 0/280 controls - 0 - Gajja Salomons
+/+ 7 c.1040_1042del r.(?) p.Ile347del - NA g.152958940_152958942del g.153693485_153693487del 1040_1042delTCA - SLC6A8_003058 overexpression in SLC6A8 deficient fibroblasts did not restore creatine uptake PubMed: Rosenberg 2007 - - In vitro (cloned) - - - 0 - Gajja Salomons
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