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.
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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.2299G>A r.(?) p.(Gly767Arg) - likely benign g.20676319G>A g.20654773G>A SLC6A5(NM_004211.5):c.2299G>A (p.G767R) - SLC6A5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2299G>A r.(?) p.(Gly767Arg) - benign g.20676319G>A g.20654773G>A - - SLC6A5_000033 126 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16906628 Germline - 126/2794 individuals - 0 - Mohammed Faruq
-/. - c.2299G>A r.(?) p.(Gly767Arg) - benign g.20676319G>A g.20654773G>A - - SLC6A5_000033 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16906628 Germline - 1/2794 individuals - 0 - Mohammed Faruq
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