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     
+/+ 3 c.570_571del r.(?) p.(Ala191Glnfs*10) - pathogenic (recessive) g.152956934_152956935del g.153691479_153691480del 568_569delTG - SLC6A8_003030 - Journal: De Kort 2006 - - Germline - - - 0 - Gajja Salomons
+/+ 3 c.570_571del r.(?) p.(Ala191Glnfs*10) - pathogenic (recessive) g.152956934_152956935del g.153691479_153691480del 568_569delTG - SLC6A8_003030 - Journal: De Kort 2006 - - Germline - - - 0 - Gajja Salomons
+/. - c.570_571del r.(?) p.(Ala191GlnfsTer10) - pathogenic g.152956934_152956935del - SLC6A8(NM_005629.4):c.570_571delTG (p.A191Qfs*10) - SLC6A8_003030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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