All variants in the SLC6A8 gene

Information The variants shown are described using the NM_005629.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

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.1016+9C>T r.(=) p.(=) - likely benign g.152958830C>T g.153693375C>T SLC6A8(NM_005629.3):c.1016+9C>T, SLC6A8(NM_005629.4):c.1016+9C>T - SLC6A8_003054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/- 6i c.1016+9C>T r.= p.= - benign g.152958830C>T g.153693375C>T IVS6+9C>T - SLC6A8_003054 SLC6A8 cDNA analysis showed no errors. No effect predicted by 5 splice predictors , 1/1900 MR patients PubMed: Rosenberg 2004, PubMed: Betsalel 2010 - - Germline - 0/280 controls - 0 - Gajja Salomons
?/. - c.1016+9C>T r.(=) p.(=) - VUS g.152958830C>T g.153693375C>T SLC6A8(NM_005629.3):c.1016+9C>T, SLC6A8(NM_005629.4):c.1016+9C>T - SLC6A8_003054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1016+9C>T r.(=) p.(=) - likely benign g.152958830C>T g.153693375C>T SLC6A8(NM_005629.3):c.1016+9C>T, SLC6A8(NM_005629.4):c.1016+9C>T - SLC6A8_003054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend   How to query