Unique variants in gene MBTPS2

Information The variants shown are described using the NM_015884.3 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 1 c.-262C>A - r.(?) p.? g.21857591C>A g.21839473C>A - - MBTPS2_000002 - - - rs6528055 Germline - 0.14-0.39 - - - Emmelien Aten
?/. 2 1i c.76-328G>C - r.(?) p.?, p.(=) g.21860960G>C g.21842842G>C - - MBTPS2_000003 - - - rs6528056 Germline - 0.24 - - - Emmelien Aten, Yu Sun
?/. 1 2 c.197G>C - r.(?) p.(Arg66Pro) g.21861409G>C g.21843291G>C - - MBTPS2_000004 - - - rs5951639 Germline - 0.00 - - - Emmelien Aten
?/., +?/., -/. 5 2 c.222A>G - r.(?) p.(=), p.? g.21861434A>G g.21843316A>G - - MBTPS2_000005 association with plasma HDLC levels (women) PubMed: Lu 2008 - rs3213451 Germline, Unknown - 0.24-0.57 - - - Emmelien Aten, Yu Sun
?/. 1 2i c.224+51G>A - r.(?) p.? g.21861487G>A g.21843369G>A - - MBTPS2_000006 - - - rs3213452 Germline - 0.00-0.005 - - - Emmelien Aten
?/. 1 2i c.225-371G>A - r.(?) p.(=) g.21862918G>A g.21844800G>A - - MBTPS2_000007 - - - rs7057211 Germline - 0.00-0.002 - - - Emmelien Aten
+/. 3 2i c.255-6T>A - r.255_256ins256-4_256-1, r.spl? p.Trp75*, p.? g.21863313T>A g.21845195T>A c.225-6A, c.225-6A/WT - MBTPS2_000022 not in 225 control chromosomes; splicing studied using minigene construct, 1 more item PubMed: Oeffner 2009, PubMed: Oeffner 2011, PubMed: Oeffner 2009 - - Germline - - - - - Emmelien Aten
-/., +?/., +/. 16 3 c.261G>A - r.(?) p.Met87Ile, p.(Met87Ile) g.21863325G>A g.21845207G>A c.261A/WT, c.261A - MBTPS2_000018 cloned in EYFP fusion construc in pcDNA3.1; CHO expression normal protein synthesis/localisation, 5 more items PubMed: Oeffner 2009, PubMed: Ming 2009, PubMed: Oeffner 2009; PubMed: Bornholdt 2012 - - In vitro (cloned), Unknown, Germline - - - - - Emmelien Aten, Karl-Heinz Grzeschik
-?/., -/. 2 - c.291G>A likely benign, benign r.(?) p.(=) g.21863355G>A - MBTPS2(NM_015884.3):c.291G>A (p.T97=) - MBTPS2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.307G>A likely benign r.(?) p.(Ala103Thr) g.21863371G>A - MBTPS2(NM_015884.3):c.307G>A (p.A103T) - MBTPS2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 3 c.338A>C - r.(?) p.(Tyr113Ser) g.21863402A>C g.21845284A>C - - MBTPS2_000008 - - - rs7059508 Germline - 0.00 - - - Emmelien Aten
?/. 1 3 c.339C>T - r.(?) p.(=) g.21863403C>T g.21845285C>T - - MBTPS2_000009 - - - rs7063422 Germline - 0.00 - - - Emmelien Aten
-?/. 2 - c.366_383del likely benign r.(?) p.(Ser131_Ser136del) g.21863430_21863447del - MBTPS2(NM_015884.3):c.366_383delCTCTTCTTCCTCTTCCTC (p.S131_S136del) - MBTPS2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 3 c.387_389del - Ser130del p.(Ser136del) g.21863451_21863453del g.21845333_21845335del - - MBTPS2_000010 - - - rs3834687 Germline - - - - - Emmelien Aten
-?/. 1 - c.390_392del likely benign r.(?) p.(Ser136del) g.21863454_21863456del - MBTPS2(NM_015884.3):c.390_392delATC (p.S136del) - MBTPS2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.408G>A likely benign r.(?) p.(=) g.21863472G>A - MBTPS2(NM_015884.3):c.408G>A (p.S136=) - MBTPS2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 3i c.438+59A>C - r.(?) p.? g.21863561A>C g.21845443A>C - - MBTPS2_000011 - - - rs7063399 Germline - 0.00-0.08 - - - Emmelien Aten
-?/. 1 - c.459C>T likely benign r.(?) p.(=) g.21869647C>T - MBTPS2(NM_015884.3):c.459C>T (p.P153=) - MBTPS2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., ?/. 3 - c.485C>T likely benign, VUS r.(?) p.(Thr162Met) g.21869673C>T - MBTPS2(NM_015884.3):c.485C>T (p.T162M, p.(Thr162Met)) - MBTPS2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden, VKGL-NL_Groningen
?/. 3 4i c.542+253A>G - r.(?) p.?, p.(=) g.21869983A>G g.21851865A>G - - MBTPS2_000012 - - - rs2071210 Germline - 0.12-0.20 - - - Emmelien Aten, Yu Sun
-?/. 1 - c.639G>A likely benign r.(?) p.(=) g.21871590G>A - MBTPS2(NM_015884.3):c.639G>A (p.S213=) - MBTPS2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.670+2766T>C - - p.(=) g.21874387T>C g.21856269T>C - - MBTPS2_000039 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.670+3074T>G likely benign r.(=) p.(=) g.21874695T>G - YY2(NM_206923.3):c.93T>G (p.P31=) - MBTPS2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.670+3899C>T likely benign r.(=) p.(=) g.21875520C>T - YY2(NM_206923.3):c.918C>T (p.T306=) - MBTPS2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.670+3993G>A likely benign r.(=) p.(=) g.21875614G>A - YY2(NM_206923.3):c.1012G>A (p.(Asp338Asn)) - MBTPS2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.670+4027A>G VUS r.(=) p.(=) g.21875648A>G - YY2(NM_206923.3):c.1046A>G (p.N349S, p.(Asn349Ser)) - MBTPS2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 2 - c.670+4200del - - p.(=) g.21875821del g.21857703del - - MBTPS2_000049 - - - - Germline - - - - - Yu Sun
?/. 1 - c.670+4491A>G - - p.(=) g.21876112A>G g.21857994A>G - - MBTPS2_000042 - - - - Germline - - - - - Yu Sun
+/. 2 5i c.671-9T>G - r.671_789del p.Ile225Leufs*25 g.21886576T>G g.21868458T>G - - MBTPS2_000028 patient RNA analysis and minigene construct PubMed: Oeffner 2011 - - Germline - - - - - Johan den Dunnen, Emmelien Aten
-/., +?/., +/. 4 6 c.677G>T - r.(?) p.Trp226Leu, p.(Trp226Leu) g.21886591G>T g.21868473G>T c.677T - MBTPS2_000020 cloned in EYFP fusion construc in pcDNA3.1; CHO expression normal protein synthesis/localisation, 3 more items PubMed: Oeffner 2009 - - In vitro (cloned), Germline - - BstXI - - Emmelien Aten
-/., +?/., -?/., +/. 8 6 c.680A>T - r.(?) p.His227Leu, p.(His227Leu) g.21886594A>T g.21868476A>T c.680T/WT, c.680T - MBTPS2_000001 cloned in EYFP fusion construc in pcDNA3.1; CHO expression normal protein synthesis/localisation, 3 more items PubMed: Oeffner 2009 - - In vitro (cloned), Germline - - - - - Emmelien Aten
+?/. 4 6 c.686T>C - r.(?) Phe229Ser g.21886600T>C g.21868482T>C - - MBTPS2_000029 Variant absent from 160 control X-chromosomes. PubMed: Bornholdt 2012 - - Germline - - - - - Karl-Heinz Grzeschik
?/. 1 - c.706A>G VUS r.(?) p.(Ile236Val) g.21886620A>G - MBTPS2(NM_015884.3):c.706A>G (p.(Ile236Val)) - MBTPS2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 2 6 c.758G>C - r.(?) Gly253Ala g.21886672G>C g.21868554G>C - - MBTPS2_000030 1 more item PubMed: Bornholdt 2012 - - Germline - - PstI - - Karl-Heinz Grzeschik
?/. 1 6 c.774C>G - r.(?) p.Ile258Met g.21886688C>G g.21868570C>G - - MBTPS2_000033 Variant absent from 160 control X-chromosomes. PubMed: Bornholdt 2012 - - Unknown - - PagI - - Karl-Heinz Grzeschik
?/. 1 6i c.789+104C>T - r.(?) p.? g.21886807C>T g.21868689C>T - - MBTPS2_000013 - - - rs6653655 Germline - 0.00-0.04 - - - Emmelien Aten
?/. 1 6i c.790-229C>T - r.(?) p.? g.21887387C>T g.21869269C>T - - MBTPS2_000014 - - - rs2071191 Germline - 0.13-0.40 - - - Emmelien Aten
?/. 2 - c.970+1309C>T - - p.(=) g.21889105C>T g.21870987C>T - - MBTPS2_000043 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1061G>A likely benign r.(?) p.(Arg354His) g.21896250G>A - MBTPS2(NM_015884.3):c.1061G>A (p.R354H) - MBTPS2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1237C>T likely benign r.(?) p.(His413Tyr) g.21896786C>T - MBTPS2(NM_015884.3):c.1237C>T (p.H413Y) - MBTPS2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 9i c.1261+103A>G - r.(?) p.? g.21896913A>G g.21878795A>G - - MBTPS2_000015 - - - rs3752405 Germline - 0.03-0.33 - - - Emmelien Aten
?/. 1 9i c.1262-173C>A - r.(?) p.? g.21898842C>A g.21880724C>A - - MBTPS2_000016 - - - rs6633469 Germline - 0.03-0.33 - - - Emmelien Aten
+/., -/., +?/. 18 10 c.1286G>A pathogenic r.(?) p.(Arg429His), p.Arg429His g.21899039G>A g.21880921G>A c.1286A/WT - MBTPS2_000019 not in 225 control chromosomes, VKGL data sharing initiative Nederland, 4 more items PubMed: Oeffner 2009, Schwartz 2009, Workshop Fragile-X and XLMR, A96, PubMed: Nakayama 2011, 1 more item - - Germline, In vitro (cloned), CLASSIFICATION record, Unknown - - TaiI - - Emmelien Aten, VKGL-NL, Karl-Heinz Grzeschik
+/. 1 11 c.1376A>G - r.(?) p.(Asn459Ser) g.21900589A>G g.21882471A>G - - MBTPS2_000040 variant not in 644 control chromosomes; skewed inactivation in female carriers PubMed: Lindert 2016, Journal: Lindert 2016 - - Germline yes - - - - Cecilia Giunta
+?/. 1 11 c.1388G>T - r.(?) p.(Cys463Phe) g.21900601G>T g.21882483G>T - - MBTPS2_000027 - - - - Germline - - - - - Emmelien Aten
-/., +/., +?/. 6 11 c.1424T>C - r.(?) p.Phe475Ser, p.(Phe475Ser) g.21900637T>C g.21882519T>C c.1424C - MBTPS2_000021 cloned in EYFP fusion construc in pcDNA3.1; CHO expression normal protein synthesis/localisation, 4 more items PubMed: Oeffner 2009, PubMed: Oeffner 2009; PubMed: Bornholdt 2012 - - In vitro (cloned), Germline - - Eco130L, Eco130i - - Emmelien Aten, Karl-Heinz Grzeschik
+?/. 3 11 c.1427T>C - r.(?) Leu476Ser g.21900640T>C g.21882522T>C - - MBTPS2_000031 1 more item PubMed: Bornholdt 2012 - - Germline, Unknown - - - - - Karl-Heinz Grzeschik
+?/. 1 11 c.1430A>T - r.(?) p.Asp477Val g.21900643A>T g.21882525A>T - - MBTPS2_000032 1 more item PubMed: Bornholdt 2012 - - Unknown - - - - - Karl-Heinz Grzeschik
+/+ 1 11 c.1433C>A - r.(?) p.(Ala478Asp) g.21900646C>A g.21882528C>A - - MBTPS2_000026 - PubMed: Tang - - Unknown - - - - - Emmelien Aten
+/. 1 11 c.1468A>G - r.(?) p.(Lys490Glu) g.21900681A>G g.21882563A>G - - MBTPS2_000023 - Schwartz 2009, Workshop Fragile-X and XLMR, A96 - - Unknown - - - - - Emmelien Aten
+?/., +/. 6 11 c.1499G>A likely pathogenic r.(?) p.Gly500Asp, p.(Gly500Asp) g.21900712G>A g.21882594G>A - - MBTPS2_000024 VKGL data sharing initiative Nederland, 1 more item PubMed: Bornholdt 2012, Schwartz 2009, Workshop Fragile-X and XLMR, A96 - - Germline, Unknown, CLASSIFICATION record - - - - - Karl-Heinz Grzeschik, VKGL-NL, Emmelien Aten
+/. 2 11 c.1515G>C - r.(?) p.(Leu505Phe) g.21900728G>C g.21882610G>C - - MBTPS2_000041 - PubMed: Lindert 2016, Journal: Lindert 2016 - - Germline yes - - - - Cecilia Giunta
+?/., +/. 9 11 c.1523A>G pathogenic r.(?), r.1523a>g p.Asn508Ser, p.(Asn508Ser) g.21900736A>G g.21882618A>G - - MBTPS2_000025 cloned in EYFP fusion construc in pcDNA3.1; CHO expression reduced sterol resposiveness, 4 more items PubMed: Aten 2010; PubMed: Bornholdt 2012, PubMed: Aten 2010, PubMed: Ding 2010 - - Unknown, In vitro (cloned), CLASSIFICATION record - - BsrI - - Karl-Heinz Grzeschik, Emmelien Aten, VKGL-NL
+?/. 1 11 c.1538T>C - r.(?) p.Leu513Pro g.21900751T>C g.21882633T>C - - MBTPS2_000034 Variant absent from 160 control X-chromosomes. PubMed: Bornholdt 2012 - - Unknown - - EcoO109I - - Karl-Heinz Grzeschik
?/. 3 11 c.*1130G>A - r.(?) p.?, p.(=) g.21901903G>A g.21883785G>A - - MBTPS2_000017 - - - rs5951476 Germline - 0.22-0.56 - - - Emmelien Aten, Yu Sun
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