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     
?/. 2i c.394+88G>A r.(=) p.(=) - VUS g.152956049G>A g.153690594G>A - - SLC6A8_003024 - - - rs6643763 Germline - - - 0 - Andreas Laner
?/. 2i c.394+88G>A r.(=) p.(=) - VUS g.152956049G>A g.153690594G>A - - SLC6A8_003024 - - - - Germline - - - 0 - Andreas Laner
-/- 2i c.394+88G>A r.(?) p.(=) - benign g.152956049G>A g.153690594G>A - - SLC6A8_003024 Detected in control(s). No effect predicted by 5 splice predictors, 1/1900 MR patients PubMed: Betsalel 2010 - - Germline - 1/281 controls - 0 - Gajja Salomons
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