Unique variants in the AEBP1 gene

Ehlers Danlos Syndrome Variant Database


Information The variants shown are described using the NM_001129.4 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     

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.21G>A r.(?) p.(Ala7=) - - - benign g.44144285G>A - AEBP1(NM_001129.5):c.21G>A (p.A7=) - AEBP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.216G>C r.(?) p.(Gly72=) - - - likely benign g.44144480G>C - AEBP1(NM_001129.5):c.216G>C (p.G72=) - AEBP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.267G>C r.(?) p.(Lys89Asn) - - - VUS g.44146158G>C - AEBP1(NM_001129.4):c.267G>C (p.K89N) - AEBP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/+? 2 2 c.362dup r.(?), r.? p.(Glu122Glyfs*16), p.(Glu122GlyfsTer16) frameshift duplication - likely pathogenic, pathogenic (recessive) g.44146253dup g.44106654dup 362dupA - AEBP1_000001 - PubMed: Colman 2021, Journal: Colman 2021, PubMed: Syx et al., 2019 - - Germline, Unknown - - - - - Johan den Dunnen, Sofie Symoens
+/+, +/. 2 2 c.443dup r.(?), r.? p.(Ala149Glyfs*57), p.(Ala149GlyfsTer57) frameshift duplication - pathogenic, pathogenic (recessive) g.44146334dup g.44106735dup 443dupA - AEBP1_000002 - PubMed: Colman 2021, Journal: Colman 2021, PubMed: Syx et al., 2019 - - Germline, Unknown - - - - - Johan den Dunnen, Sofie Symoens
-?/. 1 - c.560C>G r.(?) p.(Pro187Arg) - - - likely benign g.44146451C>G - AEBP1(NM_001129.4):c.560C>G (p.P187R) - AEBP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.599C>T r.(?) p.(Ala200Val) - - - benign g.44147041C>T - AEBP1(NM_001129.5):c.599C>T (p.A200V) - AEBP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.895C>T r.(?) p.(Pro299Ser) - - - likely benign g.44147638C>T - AEBP1(NM_001129.4):c.895C>T (p.P299S) - AEBP1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/. 2 6 c.917dup r.917dup, r.? p.(Tyr306*), p.Tyr306* nonsense substitution ACMG pathogenic, pathogenic (recessive) g.44147660dup g.44108061dup - - AEBP1_000005 1 more item PubMed: Hebebrand et al., 2019 - - Germline, Unknown yes gnomAD 2/229558 - - - Raymond Dalgleish, Moritz Hebebrand
-?/. 1 - c.1014G>A r.(?) p.(Glu338=) - - - likely benign g.44148571G>A - AEBP1(NM_001129.4):c.1014G>A (p.E338=) - AEBP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1018+4_1018+7del r.spl? p.? - - - likely benign g.44148579_44148582del - AEBP1(NM_001129.4):c.1016_1018+1delTGAG, AEBP1(NM_001129.5):c.1016_1018+1delTGAG - AEBP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.1060G>A r.(?) p.(Asp354Asn) - - - likely benign g.44148747G>A - AEBP1(NM_001129.4):c.1060G>A (p.D354N) - AEBP1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/. 2 9 c.1149_1150+2del r.spl p.? deletion deletion - pathogenic, pathogenic (recessive) g.44148939_44148942del g.44109340_44109343del - - AEBP1_000003 - PubMed: Colman 2021, Journal: Colman 2021, PubMed: Syx et al., 2019 - - Germline, Unknown - - - - - Johan den Dunnen, Sofie Symoens
-?/. 1 - c.1150+9G>A r.(=) p.(=) - - - likely benign g.44148949G>A - AEBP1(NM_001129.4):c.1150+9G>A - AEBP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1151-11C>T r.(=) p.(=) - - - benign g.44149603C>T - AEBP1(NM_001129.5):c.1151-11C>T - POLD2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1151-8G>A r.(=) p.(=) - - - likely benign g.44149606G>A - AEBP1(NM_001129.4):c.1151-8G>A - POLD2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 11 c.1320_1326del r.(?) p.(Arg440Serfs*3) frameshift deletion ACMG pathogenic g.44149865_44149871del g.44110266_44110272del - - AEBP1_000015 - PubMed: Blackburn 2018 535288 - Germline - - - - - Moritz Hebebrand
-/. 1 - c.1330A>T r.(?) p.(Ile444Leu) - - - benign g.44149875A>T - AEBP1(NM_001129.5):c.1330A>T (p.I444L) - POLD2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1358G>A r.(?) p.(Arg453Gln) - - - likely benign g.44149903G>A - AEBP1(NM_001129.4):c.1358G>A (p.R453Q) - POLD2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 12 c.1470del r.[1470del;1485_1486ins1485+1_1486-1] p.Asn490_Met495delins(40) frameshift deletion ACMG pathogenic g.44150393del g.44110794del 1470delC - AEBP1_000013 compound heterozygous case PubMed: Blackburn 2018 545023 - Germline - - - - - Moritz Hebebrand
-/. 1 - c.1486-8C>G r.(=) p.(=) - - - benign g.44150504C>G - AEBP1(NM_001129.5):c.1486-8C>G - MIR4649_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 13i c.1630+1G>A r.1609_1630del p.Val537Leufs*31 splicing affected substitution ACMG pathogenic g.44150657G>A g.44111058G>A - - AEBP1_000016 1 more item PubMed: Blackburn 2018, PubMed: Alazami 2016 535285 rs369016031 Germline yes - - - - Moritz Hebebrand
+/. 1 15 c.1743C>A r.1743c>a p.Cys581* nonsense substitution ACMG pathogenic g.44151132C>A g.44111533C>A - - AEBP1_000014 compound heterozygous case PubMed: Blackburn 2018 535286 rs777647845 Germline yes - - - - Moritz Hebebrand
?/. 1 - c.1855C>T r.(?) p.(Arg619Cys) - - - VUS g.44151467C>T - AEBP1(NM_001129.4):c.1855C>T (p.R619C) - POLD2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1894C>T r.(?) p.(Arg632*) nonsense substitution ACMG pathogenic (recessive) g.44151506C>T g.44111907C>T - - AEBP1_000027 - PubMed: Sanai 2023, Journal: Sanai 2023 - - Germline - - - - - Tomoki Kosho
+/+ 1 16 c.1925T>C r.? p.(Leu642Pro) missense substitution - pathogenic g.44151537T>C - - - AEBP1_000004 - PubMed: Ritelli et al., 2019 - rs753531562 Unknown - - - - - Marco Ritelli, Marina Colombi
-/. 1 - c.2037+17G>A r.(=) p.(=) - - - benign g.44151666G>A - AEBP1(NM_001129.5):c.2037+17G>A - POLD2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.2974G>A r.(?) p.(Glu992Lys) - - - VUS g.44153357G>A g.44113758G>A - - AEBP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 2 - c.3091G>A r.(?) p.(Ala1031Thr) - - - benign, likely benign g.44153474G>A - AEBP1(NM_001129.4):c.3091G>A (p.A1031T), AEBP1(NM_001129.5):c.3091G>A (p.A1031T) - POLD2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.3100C>A r.(?) p.(Arg1034=) - - - likely benign g.44153483C>A - AEBP1(NM_001129.5):c.3100C>A (p.R1034=) - POLD2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.3101G>A r.(?) p.(Arg1034Gln) - - - VUS g.44153484G>A - AEBP1(NM_001129.4):c.3101G>A (p.R1034Q) - POLD2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3118G>A r.(?) p.(Ala1040Thr) - - - likely benign g.44153501G>A - AEBP1(NM_001129.4):c.3118G>A (p.A1040T) - POLD2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3156G>C r.(?) p.(=) - - - likely benign g.44153539G>C - AEBP1(NM_001129.5):c.3156G>C (p.T1052=) - POLD2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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