All transcript variants in gene SEMA3A

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

49 entries on 1 page. Showing entries 1 - 49.
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Effect     

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_1i c.(-153179_-147432)_(112+2389__112+3493)del - r.0? p.0? g.(83820298_83821402)_(83971334_83977081)del - g. (83658234_83659338)_(83809270_ 83815017)del NCBI36.1 - SEMA3A_000005 - PubMed: Hofmann 2013, Journal: Hofmann 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. 2 c.196C>T - r.(?) p.(Arg66Trp) g.83764184G>A g.84134868G>A 197C>T - SEMA3A_000007 - PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - 1/386 cases - 0 - Johan den Dunnen
+/. 2 c.196C>T - r.(?) p.(Arg66Trp) g.83764184G>A g.84134868G>A 19&C>T - SEMA3A_000007 - PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - 1/1542 control chromosomes - 0 - Johan den Dunnen
+/. 2 c.196C>T - - p.Arg66Trp g.83764184G>A g.84134868G>A 197C>T - SEMA3A_000007 cDNA expression cloning in COS7 cells showed impaired SEMA3A secretion and in GN11 cells (embryonic) reducd SEMA3A signaling activity PubMed: Hanchate 2012, Journal: Hanchate 2012 - - In vitro (cloned) - - - 0 - Johan den Dunnen
?/. 2 c.196C>T - r.(?) p.(Arg66Trp) g.83764184G>A g.84134868G>A g.65034C>T - SEMA3A_000007 - PubMed: Neubauer 2018, Journal: Neubauer 2018 - rs199979628 Unknown - - - 0 - Cordula Haas
?/. - c.440G>T VUS r.(?) p.(Gly147Val) g.83739799C>A - SEMA3A:NM_006080.2:c.440G>T (Gly147Val) - SEMA3A_000025 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 5 c.458A>G - r.(?) p.(Asn153Ser) g.83689870T>C g.84060554T>C - - SEMA3A_000008 not in 1544 control chromosomes PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - 2/386 cases - 0 - Johan den Dunnen
+/. 5 c.458A>G - - p.Asn153Ser g.83689870T>C g.84060554T>C - - SEMA3A_000008 cDNA expression cloning in GN11 cells (embryonic) showed reduced SEMA3A signaling activity and in COS7 cells normal SEMA3A secretion PubMed: Hanchate 2012, Journal: Hanchate 2012 - - In vitro (cloned) - - - 0 - Johan den Dunnen
?/. - c.458A>G VUS r.(?) p.(Asn153Ser) g.83689870T>C - SEMA3A:NM_006080,2:c.458A>G (Asn153Ser) - SEMA3A_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. 6 c.607C>T - r.0? p.(Arg203*) g.83675700G>A g.84046384G>A - - SEMA3A_000001 - - - - Germline yes - - 0 - Andreas Janecke
-/. 6i c.668-20C>T - r.= p.= g.83643687G>A g.84014371G>A - - SEMA3A_000003 - PubMed: Hofmann 2013, Journal: Hofmann 2013 - - Germline - - - 0 - Johan den Dunnen
-/. - c.668-20C>T benign r.(=) p.(=) g.83643687G>A - SEMA3A:c.668-20C>T - SEMA3A_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.668-20C>T benign r.(=) p.(=) g.83643687G>A - SEMA3A:NM_006080.2:c.668-20C>T (?) - SEMA3A_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 6i c.668-14T>A - r.= p.= g.83643681A>T g.84014365A>T - - SEMA3A_000004 - PubMed: Hofmann 2013, Journal: Hofmann 2013 - - Germline - - - 0 - Johan den Dunnen
-/. - c.668-14T>A benign r.(=) p.(=) g.83643681A>T - SEMA3A:c.668-14T>A - SEMA3A_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.668-14T>A benign r.(=) p.(=) g.83643681A>T - SEMA3A:NM_006080.2:c.668-14T>A (?) - SEMA3A_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/? 6i_17_ c.(667+1_668-1)_(*3028_?)del - r.? p.? g.(83463000_83587659)_(83643668_83675639)_del - - - SEMA3A_000000 213 kb deletion, not in 1040 control chromosomes; no variants on other allele; Hanchate (2012) question the autosomal dominant mendelian inheritance and suggested a variant in another gene combined with SEMA3A haploinsufficiency associates with the disease phenotype PubMed: Young 2012, Journal: Young 2012, OMIM:var0001, PubMed: Hanchate 2012 - - Germline yes - - 0 - Johan den Dunnen
?/. - c.689A>G VUS r.(?) p.(His230Arg) g.83643646T>C - SEMA3A:NM_006080.2:c.689A>G (His230Arg) - SEMA3A_000024 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 9 c.945_949delinsTACATCTTCTAATG - r.[925_926ins925+1_926-1,945_949delinsuacaucuucuaaug] p.[Gln309fs,Phe316_Lys317delinsThrSerSerAsnGlu] 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 - - 0 - Johan den Dunnen
+/. 11 c.1198A>G - r.(?) p.(Ile400Val) g.83634817T>C g.84005501T>C - - SEMA3A_000009 not in 1544 control chromosomes PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - 1/386 cases - 0 - Johan den Dunnen
+/. 11 c.1198A>G - - p.Ile400Val g.83634817T>C g.84005501T>C - - SEMA3A_000009 cDNA expression cloning in GN11 cells (embryonic) showed reduced SEMA3A signaling activity and in COS7 cells normal SEMA3A secretion PubMed: Hanchate 2012, Journal: Hanchate 2012 - - In vitro (cloned) - - - 0 - Johan den Dunnen
-/. - c.1302T>C benign r.(=) p.(=) g.83634713A>G - SEMA3A:NM_006080.2:c.1302T>C (=) - SEMA3A_000023 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 11 c.1303G>A - r.(?) p.(Val435Ile) g.83634712C>T g.84005396C>T - - SEMA3A_000006 - PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0002 - - Germline - 13/386 cases - 0 - Johan den Dunnen
+/. 11 c.1303G>A - r.(?) p.(Val435Ile) g.83634712C>T g.84005396C>T - - SEMA3A_000006 - PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0002 - - Germline - 1/386 cases - 0 - Johan den Dunnen
+/. 11 c.1303G>A - r.(?) p.(Val435Ile) g.83634712C>T g.84005396C>T - - SEMA3A_000006 - PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0002 - - Germline - 1/386 cases - 0 - Johan den Dunnen
+/. 11 c.1303G>A - r.(?) p.(Val435Ile) g.83634712C>T g.84005396C>T - - SEMA3A_000006 - PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0002 - - Germline - 1/386 cases - 0 - Johan den Dunnen
+/. 11 c.1303G>A - r.(?) p.(Val435Ile) g.83634712C>T g.84005396C>T - - SEMA3A_000006 - PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0002 - - Germline - 13/1542 control chromosomes - 0 - Johan den Dunnen
+/. 11 c.1303G>A - - p.Val435Ile g.83634712C>T g.84005396C>T - - SEMA3A_000006 cDNA expression cloning in COS7 cells showed impaired SEMA3A secretion and in GN11 cells (embryonic) reduced SEMA3A signaling activity PubMed: Hanchate 2012, Journal: Hanchate 2012 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. 11 c.1303G>A - r.(?) p.(Val435Ile) g.83634712C>T g.84005396C>T - - SEMA3A_000006 - - - rs147436181 Germline ? - - 0 - Anna Alkelai
-/. - c.1361-14A>G benign r.(=) p.(=) g.83631376T>C - SEMA3A:NM_006080.2:c.1361-14A>G (?) - SEMA3A_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 12 c.1382T>C - r.(?) p.(Val461Ala) g.83631341A>G g.84002025A>G - - SEMA3A_000015 - - - rs144690677 Germline no - - 0 - Anna Alkelai
-?/. 12i c.1453-3693del - r.(?) p.(=) g.83618486del g.83989170del NG_011489.1:g.210732delT - SEMA3A_000016 - - - - De novo - - - 0 - Xuehan Zhuang
-/. - c.1563G>C benign r.(=) p.(=) g.83610726C>G - SEMA3A:NM_006080.2:c.1563G>C (= (Gly521Gly) - SEMA3A_000021 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1591C>T likely benign r.(?) p.(Arg531*) g.83610698G>A - SEMA3A:NM_006080,2:c.1591C>T (Arg531*) - SEMA3A_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 14 c.1613_1626del - r.(?) p.(Asp538Valfs*31) g.83610663_83610676del g.83981347_83981360del del1613_1626 (D538fsX31) - SEMA3A_000013 not in 1544 control chromosomes PubMed: Hanchate 2012, Journal: Hanchate 2012, OMIM:var0003 - rs147436181 Germline - 1/386 cases - 0 - Johan den Dunnen
+/. 14 c.1613_1626del - - p.(Asp538Valfs*31) g.83610663_83610676del g.83981347_83981360del del1613_1626 (D538fsX31) - SEMA3A_000013 cDNA expression cloning in COS7 cells showed impaired SEMA3A secretion and in GN11 cells (embryonic) reduced SEMA3A signaling activity PubMed: Hanchate 2012, Journal: Hanchate 2012 - - In vitro (cloned) - - - 0 - Johan den Dunnen
-/. - c.1653-6C>T benign r.(=) p.(=) g.83606518G>A - SEMA3A:c.1653-6C>T - SEMA3A_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1653-6C>T benign r.(=) p.(=) g.83606518G>A - SEMA3A:NM_006080.2:c.1653-6C>T (?) - SEMA3A_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1654C>T VUS r.(?) p.(Arg552Cys) g.83606511G>A - SEMA3A:c.1654C>T (R552C) - SEMA3A_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. 17 c.2062A>G - r.(?) p.(Thr688Ala) g.83590941T>C g.83961625T>C - - SEMA3A_000010 not in 1544 control chromosomes PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - 1/386 cases - 0 - Johan den Dunnen
+/. 17 c.2062A>G - - p.Thr688Ala g.83590941T>C g.83961625T>C - - SEMA3A_000010 cDNA expression cloning in GN11 cells (embryonic) showed reduced SEMA3A signaling activity and in COS7 cells normal SEMA3A secretion PubMed: Hanchate 2012, Journal: Hanchate 2012 - - In vitro (cloned) - - - 0 - Johan den Dunnen
?/. 16 c.2150C>T - r.(?) p.(Thr717Ile) g.83590853G>A g.83961537G>A - - SEMA3A_000014 - - - rs138952094 Germline yes - - 0 - Anna Alkelai
-/. - c.2151A>G benign r.(=) p.(=) g.83590852T>C - SEMA3A:c.2151A>G (=) - SEMA3A_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2151A>G benign r.(=) p.(=) g.83590852T>C - SEMA3A:NM_006080.2:c.2151A>G (= (Thr717Thr) - SEMA3A_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 17 c.2189G>A - r.(?) p.(Arg730Gln) g.83590814C>T g.83961498C>T - - SEMA3A_000011 - PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - 1/386 cases - 0 - Johan den Dunnen
?/. 17 c.2189G>A - r.(?) p.(Arg730Gln) g.83590814C>T g.83961498C>T - - SEMA3A_000011 - PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - 1/1542 control chromosomes - 0 - Johan den Dunnen
?/. 17 c.2189G>A - - p.Arg730Gln g.83590814C>T g.83961498C>T - - SEMA3A_000011 cDNA expression cloning in COS7 cells showed normal SEMA3A secretion and in GN11 cells (embryonic) normal SEMA3A signaling activity PubMed: Hanchate 2012, Journal: Hanchate 2012 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. 17 c.2198G>A - r.(?) p.(Arg733His) g.83590805C>T g.83961489C>T - - SEMA3A_000012 not in 1544 control chromosomes PubMed: Hanchate 2012, Journal: Hanchate 2012 - - Germline - 1/386 cases - 0 - Johan den Dunnen
+/. 17 c.2198G>A - - p.Arg733His g.83590805C>T g.83961489C>T - - SEMA3A_000012 cDNA expression cloning in GN11 cells (embryonic) showed reduced SEMA3A signaling activity and in COS7 cells normal SEMA3A secretion PubMed: Hanchate 2012, Journal: Hanchate 2012 - - In vitro (cloned) - - - 0 - Johan den Dunnen
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