Unique variants in the SLC6A4 gene

Information The variants shown are described using the NM_001045.6 transcript reference sequence.

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Effect     

Reported     

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     
+?/., -?/. 43 _1 - r.? p.? - likely benign g.(28564008_28564493)del(43), g.(28564008_28564493)insN[43], g.28564008_28564493=, 2 more items g.30237267_30237309del, g.30237267_30237309dup long, long (A), long (G), long (G) -1935A>G, short, short -1917_-1875del, short c.-1917_-1875del, 2 more items - SLC6A4_000004, SLC6A4_000006, SLC6A4_000007, SLC6A4_000008 no association with autistic disorder PubMed: Hu 2006, PubMed: Michaelovsky 1999, PubMed: Persico 2000 - rs774676466 Germline - 0.01 (456 individuals), 0.01 (564 individuals), 0.09 (771 individuals), 0.14 (583 individuals), 37 more items - - - Johan den Dunnen
+/., +?/., -?/. 14 _1 - r.? p.? - association, likely benign, likely benign (!), NA g.28564008_28564493=, g.28564285_28564327=, g.28564285_28564327del, g.28564346=, g.28564346T>C g.30237267_30237309=, g.30237267_30237309del, g.30237328=, g.30237328T>C long, long (A), long (G), long (G) -1936A>G, short -1917_-1875del, short 1917_-1875del - SLC6A4_000004, SLC6A4_000005, SLC6A4_000008, SLC6A4_000009, SLC6A4_000010 associated with reduced expression, baseline mRNA expression in lymphoblastoid cell lines, 5 more items PubMed: Heils 1996, PubMed: Hu 2006 - rs774676466 Germline, In vitro (cloned) - 0.01 (456 individuals), 0.01 (564 individuals), 0.09 (771 individuals), 0.14 (583 individuals), 1 more item - - - Johan den Dunnen
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