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     
-?/. - c.544G>A r.(?) p.(Val182Met) - likely benign g.152956908G>A g.153691453G>A SLC6A8(NM_005629.3):c.544G>A (p.V182M), SLC6A8(NM_005629.4):c.544G>A (p.V182M) - SLC6A8_003029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/- 3 c.544G>A r.(?) p.(Val182Met) - benign g.152956908G>A g.153691453G>A - - SLC6A8_003029 Detected in control(s). No effect predicted by 5 splice predictors. In one male MR with this variant a normal urinary cr/crn was detected , 0/1900 MR patients PubMed: Clark 2006 - - Germline - 1/635 controls Hpy;Ch4V 0 - Gajja Salomons
-?/. - c.544G>A r.(?) p.(Val182Met) - likely benign g.152956908G>A g.153691453G>A SLC6A8(NM_005629.3):c.544G>A (p.V182M), SLC6A8(NM_005629.4):c.544G>A (p.V182M) - SLC6A8_003029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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