Unique variants in the SLC46A1 gene

Information The variants shown are described using the NM_080669.4 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.55dup r.(?) p.(Val19GlyfsTer146) - pathogenic g.26733078dup g.28406060dup SLC46A1(NM_080669.3):c.55dupG (p.V19Gfs*146) - SLC46A1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.189G>C r.(?) p.(Arg63Ser) - likely benign g.26732944C>G - SLC46A1(NM_080669.3):c.189G>C (p.R63S) - SLC46A1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.272T>C r.(?) p.(Val91Ala) - likely benign g.26732443A>G g.28405425A>G SLC46A1(NM_080669.3):c.272T>C (p.V91A) - SLC46A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.294C>A r.(?) p.(Leu98=) - likely benign g.26732421G>T g.28405403G>T SLC46A1(NM_080669.3):c.294C>A (p.L98=) - SLC46A1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/? 1 ? c.337C>A r.(?) p.(Arg113Ser) - pathogenic g.26732378G>T g.28405360G>T - - SLC46A1_000006 submitted through SIB; ExPASy_032825; Loss of function mutation. {dbSNP80338770} PubMed: Zhao 2007 - - Unknown - - - - - SIB - Livia Famiglietti
+/? 1 ? c.337C>T r.(?) p.(Arg113Cys) - pathogenic g.26732378G>A g.28405360G>A - - SLC46A1_000005 submitted through SIB; ExPASy_058210; Loss of function mutation. {dbSNP80338770} PubMed: Lasry 2008 - - Unknown - - - - - SIB - Livia Famiglietti
-?/. 1 - c.414G>A r.(?) p.(Gln138=) - likely benign g.26732301C>T g.28405283C>T SLC46A1(NM_080669.3):c.414G>A (p.Q138=) - SLC46A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.425G>T r.(?) p.(Gly142Val) - likely benign g.26732290C>A g.28405272C>A SLC46A1(NM_080669.3):c.425G>T (p.G142V) - SLC46A1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/? 1 ? c.439G>C r.(?) p.(Gly147Arg) - pathogenic g.26732276C>G g.28405258C>G - - SLC46A1_000007 submitted through SIB; ExPASy_032826; {dbSNP80338771} PubMed: Zhao 2007 - - Unknown - - - - - SIB - Livia Famiglietti
+/? 1 ? c.466G>T r.(?) p.(Asp156Tyr) - pathogenic g.26732249C>A g.28405231C>A - - SLC46A1_000003 submitted through SIB; ExPASy_067960; Loss of function mutation PubMed: Shin 2010 - - Unknown - - - - - SIB - Livia Famiglietti
?/. 2 - c.512T>A r.(?) p.(Val171Asp) - VUS g.26732203A>T g.28405185A>T SLC46A1(NM_080669.3):c.512T>A (p.V171D) - SLC46A1_000015 10 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs189103810 CLASSIFICATION record, Germline - 10/2794 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
-?/. 1 - c.594C>T r.(?) p.(Leu198=) - likely benign g.26732121G>A - SLC46A1(NM_080669.3):c.594C>T (p.L198=) - SLC46A1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.746G>A r.(?) p.(Arg249Gln) - likely benign g.26731969C>T g.28404951C>T SLC46A1(NM_001242366.1):c.746G>A (p.(Arg249Gln)) - SLC46A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.756C>G r.(?) p.(Val252=) - likely benign g.26731959G>C - SLC46A1(NM_080669.3):c.756C>G (p.V252=) - SLC46A1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/? 1 ? c.954C>G r.(?) p.(Ser318Arg) - pathogenic g.26731761G>C g.28404743G>C - - SLC46A1_000008 submitted through SIB; ExPASy_032827; Loss of function mutation. {dbSNP80338772} PubMed: Zhao 2007 - - Unknown - - - - - SIB - Livia Famiglietti
+/? 1 ? c.1004C>A r.(?) p.(Ala335Asp) - pathogenic g.26731711G>T g.28404693G>T - - SLC46A1_000001 submitted through SIB; ExPASy_067961; Loss of function mutation PubMed: Shin 2011 - - Unknown - - - - - SIB - Livia Famiglietti
+/? 1 ? c.1012G>C r.(?) p.(Gly338Arg) - pathogenic g.26731703C>G g.28404685C>G - - SLC46A1_000002 submitted through SIB; ExPASy_067962; Loss of function mutation PubMed: Shin 2011 - - Unknown - - - - - SIB - Livia Famiglietti
+/? 1 ? c.1126C>T r.(?) p.(Arg376Trp) - pathogenic g.26729295G>A g.28402277G>A - - SLC46A1_000009 submitted through SIB; ExPASy_032828; Loss of function mutation. {dbSNP80338773} PubMed: Zhao 2007 - - Unknown - - - - - SIB - Livia Famiglietti
+/? 1 ? c.1127G>A r.(?) p.(Arg376Gln) - pathogenic g.26729294C>T g.28402276C>T - - SLC46A1_000004 submitted through SIB; ExPASy_067963; Loss of function mutation PubMed: Mahadeo 2010 - - Unknown - - - - - SIB - Livia Famiglietti
-/. 1 - c.1224_1226= r.(=) p.(Gly408=) - benign g.26727723del - SARM1(NM_015077.4):c.*4419delA, SLC46A1(NM_080669.3):c.1226delT (p.I409Tfs*10) - SARM1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1225A>G r.(?) p.(Ile409Val) - likely benign g.26727724T>C g.28400707T>C SLC46A1(NM_001242366.1):c.1141A>G (p.(Ile381Val)) - SLC46A1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.1233C>G r.(?) p.(Asn411Lys) - likely pathogenic g.26727715G>C - SLC46A1(NM_080669.3):c.1233C>G (p.N411K) - SARM1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 1 ? c.1274C>G r.(?) p.(Pro425Arg) - pathogenic g.26727675G>C - - - SLC46A1_000010 1 more item PubMed: Zhao 2007 - - Unknown - - - - - SIB - Livia Famiglietti
-?/. 1 - c.1366C>T r.(?) p.(Pro456Ser) - likely benign g.26726686G>A g.28399670G>A SLC46A1(NM_080669.3):c.1366C>T (p.P456S) - SLC46A1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.*2840G>A r.(=) p.(=) - likely benign g.26723832C>T g.28396813C>T - - SARM1_000002 1 homozygous; Clinindb (India), 29 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118138669 Germline - 1/2791 individuals, 29/2791 individuals - - - Mohammed Faruq
-?/. 1 - c.*3782T>C - p.? - likely benign g.26722890A>G g.28395871A>G - - SARM1_000001 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs117451747 Germline - 35/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.*27468G>C r.(=) p.(=) - likely benign g.26699204C>G g.28372185C>G SARM1(NM_015077.4):c.151C>G (p.R51G) - SARM1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*30651G>C r.(=) p.(=) - VUS g.26696021C>G - VTN(NM_000638.3):c.698G>C (p.(Gly233Ala)) - SEBOX_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.*30968T>C r.(=) p.(=) - benign g.26695704A>G g.28368683A>G - - SEBOX_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.*31811C>T r.(=) p.(=) - benign g.26694861G>A g.28367840G>A - - SEBOX_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.*32189T>C r.(=) p.(=) - benign g.26694483A>G g.28367462A>G - - SEBOX_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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