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     
-?/-? 2 c.306A>G r.(?) p.(=) - likely benign g.152955873A>G g.153690418A>G - - SLC6A8_003017 No effect predicted by 5 splice predictors. , 1/1900 MR patients PubMed: Betsalel 2010 - - Germline - 0/280 controls - 0 - Gajja Salomons
-?/. - c.306A>G r.(?) p.(Gly102=) - likely benign g.152955873A>G - SLC6A8(NM_005629.3):c.306A>G (p.G102=) - SLC6A8_003017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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