All variants in the SLC6A5 gene

Information The variants shown are described using the NM_004211.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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.266C>A r.(?) p.(Ala89Glu) - benign g.20622937C>A g.20601391C>A SLC6A5(NM_004211.5):c.266C>A (p.A89E) - SLC6A5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.266C>A r.(?) p.(Ala89Glu) - benign g.20622937C>A g.20601391C>A SLC6A5(NM_004211.5):c.266C>A (p.A89E) - SLC6A5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.266C>A r.(?) p.(Ala89Glu) - likely benign g.20622937C>A g.20601391C>A - - SLC6A5_000003 24 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61736602 Germline - 24/2780 individuals - 0 - Mohammed Faruq
Legend   How to query