All variants in the SLC6A4 gene

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

57 entries on 1 page. Showing entries 1 - 57.
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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     
-?/. _1 - r.? p.? - likely benign g.(28564008_28564493)del(43) - short c.-1917_-1875del - SLC6A4_000006 no association with autistic disorder PubMed: Persico 2000 - rs774676466 Germline - 41/92 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.(28564008_28564493)del(43) - short c.-1917_-1875del - SLC6A4_000006 no association with autistic disorder PubMed: Persico 2000 - rs774676466 Germline - 59/108 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.(28564008_28564493)del(43) - short c.-1917_-1875del - SLC6A4_000006 no association with autistic disorder PubMed: Persico 2000 - rs774676466 Germline - 56/108 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long - SLC6A4_000008 no association with autistic disorder PubMed: Persico 2000 - - Germline - 50/92 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long - SLC6A4_000008 no association with autistic disorder PubMed: Persico 2000 - - Germline - 49/108 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long - SLC6A4_000008 no association with autistic disorder PubMed: Persico 2000 - - Germline - 51/108 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.(28564008_28564493)insN[43] - very long c.-1917_-1875dup - SLC6A4_000007 no association with autistic disorder PubMed: Persico 2000 - rs774676466 Germline - 1/92 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.(28564008_28564493)insN[43] - very long c.-1917_-1875dup - SLC6A4_000007 no association with autistic disorder PubMed: Persico 2000 - rs774676466 Germline - 1/108 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.(28564008_28564493)del(43) - short c.-1917_-1875del - SLC6A4_000006 no association with autistic disorder PubMed: Persico 2000 - rs774676466 Germline - 27/74 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.(28564008_28564493)del(43) - short c.-1917_-1875del - SLC6A4_000006 no association with autistic disorder PubMed: Persico 2000 - rs774676466 Germline - 31/74 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.(28564008_28564493)del(43) - short c.-1917_-1875del - SLC6A4_000006 no association with autistic disorder PubMed: Persico 2000 - rs774676466 Germline - 35/88 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.(28564008_28564493)del(43) - short c.-1917_-1875del - SLC6A4_000006 no association with autistic disorder PubMed: Persico 2000 - rs774676466 Germline - 18/56 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long - SLC6A4_000008 no association with autistic disorder PubMed: Persico 2000 - - Germline - 47/74 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long - SLC6A4_000008 no association with autistic disorder PubMed: Persico 2000 - - Germline - 43/74 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long - SLC6A4_000008 no association with autistic disorder PubMed: Persico 2000 - - Germline - 53/88 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long - SLC6A4_000008 no association with autistic disorder PubMed: Persico 2000 - - Germline - 38/56 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.(28564008_28564493)del(43) - short -1917_-1875del - SLC6A4_000006 - PubMed: Hu 2006 - - Germline - 0.40 (771 individuals) - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long (A) - SLC6A4_000008 - PubMed: Hu 2006 - - Germline - 0.51 (771 individuals) - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long (G) - SLC6A4_000008 - PubMed: Hu 2006 - - Germline - 0.09 (771 individuals) - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.(28564008_28564493)del(43) - short -1917_-1875del - SLC6A4_000006 - PubMed: Hu 2006 - - Germline - 0.36 (583 individuals) - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long (A) - SLC6A4_000008 - PubMed: Hu 2006 - - Germline - 0.50 (583 individuals) - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long (G) - SLC6A4_000008 - PubMed: Hu 2006 - - Germline - 0.14 (583 individuals) - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.(28564008_28564493)del(43) - short -1917_-1875del - SLC6A4_000006 - PubMed: Hu 2006 - - Germline - 0.66 (456 individuals) - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long (A) - SLC6A4_000008 - PubMed: Hu 2006 - - Germline - 0.33 (456 individuals) - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long (G) - SLC6A4_000008 - PubMed: Hu 2006 - - Germline - 0.01 (456 individuals) - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.(28564008_28564493)del(43) - short -1917_-1875del - SLC6A4_000006 - PubMed: Hu 2006 - - Germline - 0.64 (564 individuals) - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long (A) - SLC6A4_000008 - PubMed: Hu 2006 - - Germline - 0.35 (564 individuals) - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long (G) - SLC6A4_000008 - PubMed: Hu 2006 - - Germline - 0.01 (564 individuals) - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.(28564008_28564493)del(43) - short -1917_-1875del - SLC6A4_000006 - PubMed: Hu 2006 - - Germline - 0.25 (624 individuals) - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long (A) - SLC6A4_000008 - PubMed: Hu 2006 - - Germline - 0.51 (624 individuals) - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long (G) -1935A>G - SLC6A4_000008 - PubMed: Hu 2006 - - Germline - 0.24 (624 individuals) - 0 - Johan den Dunnen
+?/. _1 - r.? p.? - likely benign g.(28564008_28564493)del(43) - short - SLC6A4_000006 - PubMed: Michaelovsky 1999 - - Germline - 128/280 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long - SLC6A4_000008 - PubMed: Michaelovsky 1999 - - Germline - 146/280 chromosomes - 0 - Johan den Dunnen
+?/. _1 - r.? p.? - likely benign g.(28564008_28564493)insN[43] - very long - SLC6A4_000007 - PubMed: Michaelovsky 1999 - - Germline - 6/280 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.(28564008_28564493)del(43) - short - SLC6A4_000006 - PubMed: Michaelovsky 1999 - - Germline - 96/208 chromosomes - 0 - Johan den Dunnen
+?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long - SLC6A4_000008 - PubMed: Michaelovsky 1999 - - Germline - 111/208 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.(28564008_28564493)insN[43] - very long - SLC6A4_000007 - PubMed: Michaelovsky 1999 - - Germline - 1/208 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.(28564008_28564493)del(43) - short - SLC6A4_000006 - PubMed: Michaelovsky 1999 - - Germline - 101/206 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long - SLC6A4_000008 - PubMed: Michaelovsky 1999 - - Germline - 105/206 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.(28564008_28564493)del(43) - short - SLC6A4_000006 - PubMed: Michaelovsky 1999 - - Germline - 128/228 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564008_28564493= - long - SLC6A4_000008 - PubMed: Michaelovsky 1999 - - Germline - 100/228 chromosomes - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564285_28564327del g.30237267_30237309del short - SLC6A4_000004 - PubMed: Michaelovsky 1999 - - Germline - - - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564285_28564327dup g.30237267_30237309dup very long - SLC6A4_000004 - PubMed: Michaelovsky 1999 - - Germline - - - 0 - Johan den Dunnen
+/. _1 - r.? p.? - NA g.28564285_28564327del g.30237267_30237309del short 1917_-1875del - SLC6A4_000004 expression analysis in human placental chorio-carcinoma cell line (JAR) showed reduced expression to 0.33 PubMed: Heils 1996 - rs774676466 In vitro (cloned) - - - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - NA g.28564285_28564327= g.30237267_30237309= long - SLC6A4_000010 expression analysis in human placental chorio-carcinoma cell line (JAR) showed baseline expression PubMed: Heils 1996 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+?/. _1 - r.? p.? - likely benign (!) g.28564346T>C g.30237328T>C long (G) -1936A>G - SLC6A4_000005 associated with reduced expression PubMed: Hu 2006 - - Germline - 0.09 (771 individuals) - 0 - Johan den Dunnen
+?/. _1 - r.? p.? - likely benign (!) g.28564346T>C g.30237328T>C long (G) -1936A>G - SLC6A4_000005 associated with reduced expression PubMed: Hu 2006 - - Germline - 0.14 (583 individuals) - 0 - Johan den Dunnen
+?/. _1 - r.? p.? - likely benign (!) g.28564346T>C g.30237328T>C long (G) -1936A>G - SLC6A4_000005 associated with reduced expression PubMed: Hu 2006 - - Germline - 0.01 (456 individuals) - 0 - Johan den Dunnen
+?/. _1 - r.? p.? - likely benign (!) g.28564346T>C g.30237328T>C long (G) -1936A>G - SLC6A4_000005 associated with reduced expression PubMed: Hu 2006 - - Germline - 0.01 (564 individuals) - 0 - Johan den Dunnen
+?/. _1 - r.? p.? - likely benign (!) g.28564346T>C g.30237328T>C long (G) -1936A>G - SLC6A4_000005 associated with reduced expression PubMed: Hu 2006 - - Germline - 0.24 (624 individuals) - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - likely benign g.28564285_28564327del g.30237267_30237309del short -1917_-1875del - SLC6A4_000004 - PubMed: Hu 2006 - rs774676466 Germline - - - 0 - Johan den Dunnen
+?/. _1 - r.? p.? - likely benign g.28564285_28564327del g.30237267_30237309del short -1917_-1875del - SLC6A4_000004 significantly reduced mRNA expression in lymphoblastoid cell lines PubMed: Hu 2006 - - In vitro (cloned) - - - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - NA g.28564008_28564493= - long (A) - SLC6A4_000008 baseline mRNA expression in lymphoblastoid cell lines PubMed: Hu 2006 - - In vitro (cloned) - - - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - NA g.28564008_28564493= - long (G) - SLC6A4_000008 baseline mRNA expression in lymphoblastoid cell lines PubMed: Hu 2006 - - In vitro (cloned) - - - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - NA g.28564346= g.30237328= long (A) - SLC6A4_000009 baseline mRNA expression in lymphoblastoid cell lines PubMed: Hu 2006 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+?/. _1 - r.? p.? - NA g.28564346T>C g.30237328T>C long (G) - SLC6A4_000005 creates a functional AP2 transcription-factor binding site; significantly reduced mRNA expression (0.50) in lymphoblastoid cell lines PubMed: Hu 2006 - - In vitro (cloned) - - - 0 - Johan den Dunnen
-?/. _1 - r.? p.? - association g.28564346= g.30237328= long (A) - SLC6A4_000009 association of this higher expressing long (A) allele with OCD (X2=6.64; P=.036) PubMed: Hu 2006 - - Germline - - - 0 - Johan den Dunnen
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