Unique variants in gene SEMA3A

Information The variants shown are described using the NM_006080.2 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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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 _1_1i c.(-153179_-147432)_(112+2389__112+3493)del r.0? p.0? - pathogenic g.(83820298_83821402)_(83971334_83977081)del - g. (83658234_83659338)_(83809270_ 83815017)del NCBI36.1 - SEMA3A_000005 - PubMed: Hofmann 2013, Journal: Hofmann 2013 - - Germline yes - - - - Johan den Dunnen
?/., +?/., +/. 5 2 c.196C>T r.(?) p.(Arg66Trp), p.Arg66Trp - VUS, likely pathogenic, pathogenic, NA g.83764184G>A g.84134868G>A g.65034C>T, 197C>T, 19&C>T - SEMA3A_000007 VKGL data sharing initiative Nederland, 1 more item PubMed: Neubauer 2018, Journal: Neubauer 2018, PubMed: Hanchate 2012, Journal: Hanchate 2012 - rs199979628 Unknown, CLASSIFICATION record, Germline, In vitro (cloned) - 1/386 cases, 1/1542 control chromosomes - - - Cordula Haas, VKGL-NL_Nijmegen, Johan den Dunnen
?/. 1 - c.440G>T r.(?) p.(Gly147Val) - VUS g.83739799C>A g.84110483C>A - - SEMA3A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/., +/. 4 5 c.458A>G r.(?) p.(Asn153Ser), p.Asn153Ser - VUS, pathogenic, NA g.83689870T>C g.84060554T>C SEMA3A(NM_006080.2):c.458A>G (p.N153S) - SEMA3A_000008 VKGL data sharing initiative Nederland, not in 1544 control chromosomes, 1 more item PubMed: Hanchate 2012, Journal: Hanchate 2012 - - CLASSIFICATION record, Germline, In vitro (cloned) - 2/386 cases - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam, Johan den Dunnen
+?/. 1 6 c.607C>T r.0? p.(Arg203*) - likely pathogenic g.83675700G>A g.84046384G>A - - SEMA3A_000001 - - - - Germline yes - - - - Andreas Janecke
-/. 3 6i c.668-20C>T r.(=), r.= p.(=), p.= - benign g.83643687G>A g.84014371G>A SEMA3A(NM_006080.2):c.668-20C>T - SEMA3A_000003 VKGL data sharing initiative Nederland PubMed: Hofmann 2013, Journal: Hofmann 2013 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, Johan den Dunnen
-/. 3 6i c.668-14T>A r.(=), r.= p.(=), p.= - benign g.83643681A>T g.84014365A>T SEMA3A(NM_006080.2):c.668-14T>A - SEMA3A_000004 VKGL data sharing initiative Nederland PubMed: Hofmann 2013, Journal: Hofmann 2013 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, Johan den Dunnen
+/? 1 6i_17_ c.(667+1_668-1)_(*3028_?)del r.? p.? - pathogenic g.(83463000_83587659)_(83643668_83675639)_del - - - SEMA3A_000000 1 more item PubMed: Young 2012, Journal: Young 2012, OMIM:var0001, PubMed: Hanchate 2012 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.689A>G r.(?) p.(His230Arg) - VUS g.83643646T>C g.84014330T>C - - SEMA3A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.743G>A r.(?) p.(Arg248His) - VUS g.83643592C>T g.84014276C>T - - SEMA3A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 9 c.945_949delinsTACATCTTCTAATG r.[925_926ins925+1_926-1,945_949delinsuacaucuucuaaug] p.[Gln309fs,Phe316_Lys317delinsThrSerSerAsnGlu] - pathogenic g.83640384_83640388delinsCATTAGAAGATGTA g.84011068_84011072delinsCATTAGAAGATGTA - - SEMA3A_000002 inheritance maternal allele proven by cloning/linked variants PubMed: Hofmann 2013, Journal: Hofmann 2013 - - De novo yes - - - - Johan den Dunnen
+/. 2 11 c.1198A>G r.(?) p.(Ile400Val), p.Ile400Val - pathogenic, NA g.83634817T>C g.84005501T>C - - SEMA3A_000009 not in 1544 control chromosomes, 1 more item PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline, In vitro (cloned) - 1/386 cases - - - Johan den Dunnen
-/. 1 - c.1302T>C r.(?) p.(Ile434=) - benign g.83634713A>G g.84005397A>G - - SEMA3A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 7 11 c.1303G>A r.(?) p.(Val435Ile), p.Val435Ile - pathogenic, NA g.83634712C>T g.84005396C>T - - SEMA3A_000006 1 more item PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0002, 1 more item - rs147436181 Germline, In vitro (cloned) ? 13/386 cases, 1/386 cases, 13/1542 control chromosomes - - - Anna Alkelai, Johan den Dunnen
-/. 1 - c.1361-14A>G r.(=) p.(=) - benign g.83631376T>C g.84002060T>C - - SEMA3A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 12 c.1382T>C r.(?) p.(Val461Ala) - VUS g.83631341A>G g.84002025A>G - - SEMA3A_000015 - - - rs144690677 Germline no - - - - Anna Alkelai
?/. 1 - c.1450C>T r.(?) p.(Arg484Trp) - VUS g.83631273G>A g.84001957G>A - - SEMA3A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 12i c.1453-3693del r.(?) p.(=) - likely benign g.83618488del g.83989172del NG_011489.1:g.210732delT - SEMA3A_000016 - - - - De novo - - - - - Xuehan Zhuang
?/. 1 - c.1561G>A r.(?) p.(Gly521Arg) - VUS g.83610728C>T g.83981412C>T - - SEMA3A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1563G>C r.(?) p.(Gly521=) - benign g.83610726C>G g.83981410C>G - - SEMA3A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1591C>T r.(?) p.(Arg531Ter) - likely benign g.83610698G>A g.83981382G>A - - SEMA3A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 14 c.1613_1626del r.(?) p.(Asp538Valfs*31) - pathogenic, NA g.83610663_83610676del g.83981347_83981360del del1613_1626 (D538fsX31) - SEMA3A_000013 not in 1544 control chromosomes, 1 more item PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0003, 1 more item - rs147436181 Germline, In vitro (cloned) - 1/386 cases - - - Johan den Dunnen
-/. 2 - c.1653-6C>T r.(=) p.(=) - benign g.83606518G>A g.83977202G>A SEMA3A(NM_006080.2):c.1653-6C>T - SEMA3A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.1654C>T r.(?) p.(Arg552Cys) - VUS g.83606511G>A g.83977195G>A SEMA3A(NM_006080.2):c.1654C>T (p.R552C) - SEMA3A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 17 c.2062A>G r.(?) p.(Thr688Ala), p.Thr688Ala - pathogenic, NA g.83590941T>C g.83961625T>C - - SEMA3A_000010 not in 1544 control chromosomes, 1 more item PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline, In vitro (cloned) - 1/386 cases - - - Johan den Dunnen
?/. 1 16 c.2150C>T r.(?) p.(Thr717Ile) - VUS g.83590853G>A g.83961537G>A - - SEMA3A_000014 - - - rs138952094 Germline yes - - - - Anna Alkelai
-/. 2 - c.2151A>G r.(?) p.(Thr717=) - benign g.83590852T>C g.83961536T>C SEMA3A(NM_006080.2):c.2151A>G (p.T717=) - SEMA3A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
?/. 3 17 c.2189G>A r.(?) p.(Arg730Gln), p.Arg730Gln - VUS, NA g.83590814C>T g.83961498C>T - - SEMA3A_000011 1 more item PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline, In vitro (cloned) - 1/386 cases, 1/1542 control chromosomes - - - Johan den Dunnen
?/., +/. 3 17 c.2198G>A r.(?) p.(Arg733His), p.Arg733His - VUS, pathogenic, NA g.83590805C>T g.83961489C>T - - SEMA3A_000012 VKGL data sharing initiative Nederland, not in 1544 control chromosomes, 1 more item PubMed: Hanchate 2012, Journal: Hanchate 2012 - - CLASSIFICATION record, Germline, In vitro (cloned) - 1/386 cases - - - VKGL-NL_Nijmegen, Johan den Dunnen
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