Unique variants in the SLC6A5 gene

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

35 entries on 1 page. Showing entries 1 - 35.
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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     
-/. 1 - c.-91A>G r.(?) p.(=) - benign g.20621128A>G g.20599582A>G SLC6A5(NM_004211.5):c.-91A>G - SLC6A5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.59C>T r.(?) p.(Ala20Val) - likely benign g.20622730C>T g.20601184C>T SLC6A5(NM_004211.5):c.59C>T (p.A20V) - SLC6A5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.96C>T r.(?) p.(Pro32=) - likely benign g.20622767C>T g.20601221C>T SLC6A5(NM_004211.4):c.96C>T (p.P32=) - SLC6A5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.123C>A r.(?) p.(Pro41=) - likely benign g.20622794C>A - SLC6A5(NM_004211.4):c.123C>A (p.P41=) - SLC6A5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.266C>A r.(?) p.(Ala89Glu) - benign, likely benign g.20622937C>A g.20601391C>A SLC6A5(NM_004211.5):c.266C>A (p.A89E) - SLC6A5_000003 24 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs61736602 CLASSIFICATION record, Germline - 24/2780 individuals - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, Mohammed Faruq
-/. 1 - c.304G>A r.(?) p.(Gly102Ser) - benign g.20622975G>A g.20601429G>A SLC6A5(NM_004211.5):c.304G>A (p.G102S) - SLC6A5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 - c.336C>T r.(?) p.(Ser112=) - benign g.20623007C>T g.20601461C>T SLC6A5(NM_004211.5):c.336C>T (p.S112=) - SLC6A5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 2 - c.352C>T r.(?) p.(Leu118=) - benign g.20623023C>T g.20601477C>T SLC6A5(NM_004211.5):c.352C>T (p.L118=) - SLC6A5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 1 - c.371T>C r.(?) p.(Phe124Ser) - benign g.20623042T>C g.20601496T>C SLC6A5(NM_004211.5):c.371T>C (p.F124S) - SLC6A5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.395C>G r.(?) p.(Ala132Gly) - likely benign g.20623066C>G g.20601520C>G SLC6A5(NM_004211.5):c.395C>G (p.A132G) - SLC6A5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.485C>G r.(?) p.(Ala162Gly) - benign g.20623156C>G g.20601610C>G SLC6A5(NM_004211.5):c.485C>G (p.A162G) - SLC6A5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.500C>A r.(?) p.(Thr167Lys) - likely benign g.20623171C>A g.20601625C>A SLC6A5(NM_004211.5):c.500C>A (p.T167K) - SLC6A5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 3i c.679+2T>C r.spl p.? - likely pathogenic g.20625972T>C g.20604426T>C - - SLC6A5_000041 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.811+16C>T r.(=) p.(=) - likely benign g.20628700C>T g.20607154C>T SLC6A5(NM_004211.5):c.811+16C>T - SLC6A5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/., ?/. 2 - c.1046C>T r.(?) p.(Thr349Ile) - likely benign, VUS g.20636285C>T g.20614739C>T SLC6A5(NM_004211.5):c.1046C>T (p.T349I) - SLC6A5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 1 - c.1230A>G r.(?) p.(Ser410=) - benign g.20639400A>G g.20617854A>G SLC6A5(NM_004211.5):c.1230A>G (p.S410=) - SLC6A5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1277C>G r.(?) p.(Ala426Gly) - VUS g.20648270C>G g.20626724C>G SLC6A5(NM_004211.5):c.1277C>G (p.A426G) - SLC6A5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1371G>C r.(?) p.(Lys457Asn) - benign g.20648364G>C g.20626818G>C SLC6A5(NM_004211.5):c.1371G>C (p.K457N) - SLC6A5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1387G>A r.(?) p.(Asp463Asn) - benign g.20648380G>A g.20626834G>A SLC6A5(NM_004211.5):c.1387G>A (p.D463N) - SLC6A5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1496A>T r.(?) p.(Tyr499Phe) - benign g.20649626A>T g.20628080A>T SLC6A5(NM_004211.5):c.1496A>T (p.Y499F) - SLC6A5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1627C>T r.(?) p.(Pro543Ser) - VUS g.20657855C>T g.20636309C>T SLC6A5(NM_004211.4):c.1627C>T (p.P543S) - SLC6A5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1738-8_1738-7del r.(=) p.(=) - likely benign g.20658710_20658711del g.20637164_20637165del SLC6A5(NM_004211.5):c.1738-8_1738-7delGG - SLC6A5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.1806G>T r.(?) p.(Lys602Asn) - likely pathogenic g.20658786G>T g.20637240G>T SLC6A5(NM_004211.5):c.1806G>T (p.K602N) - SLC6A5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1863C>T r.(?) p.(Ile621=) - likely benign g.20658843C>T - SLC6A5(NM_004211.5):c.1863C>T (p.I621=) - SLC6A5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1910C>G r.(?) p.(Ala637Gly) - VUS g.20660045C>G g.20638499C>G SLC6A5(NM_004211.3):c.1910C>G (p.(Ala637Gly)) - SLC6A5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 2 - c.2070C>T r.(?) p.(Thr690=) - benign, likely benign g.20668480C>T g.20646934C>T SLC6A5(NM_004211.4):c.2070C>T (p.T690=), SLC6A5(NM_004211.5):c.2070C>T (p.T690=) - SLC6A5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.2071-3C>A r.spl? p.? - benign g.20673832C>A g.20652286C>A SLC6A5(NM_004211.5):c.2071-3C>A - SLC6A5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 - c.2103G>A r.(?) p.(Glu701=) - benign g.20673867G>A g.20652321G>A SLC6A5(NM_004211.5):c.2103G>A (p.E701=) - SLC6A5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 2 - c.2114A>G r.(?) p.(Tyr705Cys) - likely benign g.20673878A>G g.20652332A>G SLC6A5(NM_004211.4):c.2114A>G (p.Y705C), SLC6A5(NM_004211.5):c.2114A>G (p.Y705C) - SLC6A5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.2239-6T>C r.(=) p.(=) - benign g.20676253T>C g.20654707T>C SLC6A5(NM_004211.5):c.2239-6T>C - SLC6A5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2290C>G r.(?) p.(Gln764Glu) - likely benign g.20676310C>G g.20654764C>G SLC6A5(NM_004211.4):c.2290C>G (p.Q764E) - SLC6A5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.2299G>A r.(?) p.(Gly767Arg) - benign, likely benign g.20676319G>A g.20654773G>A SLC6A5(NM_004211.5):c.2299G>A (p.G767R) - SLC6A5_000033 1 homozygous; Clinindb (India), 126 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs16906628 CLASSIFICATION record, Germline - 1/2794 individuals, 126/2794 individuals - - - VKGL-NL_Utrecht, Mohammed Faruq
-?/. 2 - c.2306G>A r.(?) p.(Arg769His) - likely benign g.20676326G>A g.20654780G>A SLC6A5(NM_004211.4):c.2306G>A (p.R769H), SLC6A5(NM_004211.5):c.2306G>A (p.R769H) - SLC6A5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.2366A>G r.(?) p.(Lys789Arg) - likely benign g.20676386A>G g.20654840A>G SLC6A5(NM_004211.5):c.2366A>G (p.K789R) - SLC6A5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.*3C>T r.(=) p.(=) - benign g.20676417C>T g.20654871C>T SLC6A5(NM_004211.5):c.*3C>T - SLC6A5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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