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     
-?/. - c.644+9G>A r.(=) p.(=) - likely benign g.152957017G>A g.153691562G>A SLC6A8(NM_005629.4):c.644+9G>A - SLC6A8_003032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/-? 3i c.644+9G>A r.(?) p.(=) - likely benign g.152957017G>A g.153691562G>A - - SLC6A8_003032 Mild effect (<10% reduced change)predicted by 1 out of 5 splice predictors, 2/1900 MR patients PubMed: Betsalel 2010 - - Germline - 0/280 controls - 0 - Gajja Salomons
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