All variants in the SLC6A8 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.1059_1061del r.(?) p.(Phe354del) - pathogenic (recessive) g.152958959_152958961del g.153693504_153693506del 1059_1061delCTT - SLC6A8_003059 mosaic for variant PubMed: Betsalel 2008 - - Somatic - - - 0 - Gajja Salomons
+/+ 7 c.1059_1061del r.(?) p.(Phe354del) - pathogenic (recessive) g.152958959_152958961del g.153693504_153693506del 1059_1061delCTT - SLC6A8_003059 - PubMed: Betsalel 2008 - - Germline - - - 0 - Gajja Salomons
+/+ 7 c.1059_1061del r.(?) p.(Phe354del) - pathogenic (recessive) g.152958959_152958961del g.153693504_153693506del 1059_1061delCTT - SLC6A8_003059 - PubMed: Betsalel 2008 - - Germline - - - 0 - Gajja Salomons
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