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     
-/. 1i c.262+26T>C r.(=) p.(=) - benign g.152954317T>C g.153688862T>C - - SLC6A8_003011 - - - rs192387453 Germline - - - 0 - Andreas Laner
-/- 1i c.262+26T>C r.(?) p.(=) - benign g.152954317T>C g.153688862T>C IVS1+26T>C - SLC6A8_003011 Detected in control(s). No effect predicted by 5 splice predictors PubMed: Rosenberg 2004, PubMed: Betsalel 2010 - - Germline - 6/280 controls - 0 - Gajja Salomons
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