Full data view for gene ANGPT1

Information The variants shown are described using the NM_001146.3 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

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AscendingDNA change (cDNA)     

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-?/. - c.8T>C r.(?) p.(Val3Ala) Unknown - likely benign g.108509779A>G - ANGPT1(NM_001146.5):c.8T>C (p.V3A) - ANGPT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.124G>A r.(?) p.(Ala42Thr) Unknown - VUS g.108509663C>T - ANGPT1(NM_001146.4):c.124G>A (p.A42T) - ANGPT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.156C>A r.(?) p.(Gly52=) Unknown - benign g.108509631G>T g.107497403G>T ANGPT1(NM_001146.4):c.156C>A (p.G52=), ANGPT1(NM_001146.5):c.156C>A (p.G52=) - ANGPT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.156C>A r.(?) p.(Gly52=) Unknown - likely benign g.108509631G>T - ANGPT1(NM_001146.4):c.156C>A (p.G52=), ANGPT1(NM_001146.5):c.156C>A (p.G52=) - ANGPT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.228G>A r.(?) p.(Pro76=) Unknown - benign g.108509559C>T g.107497331C>T ANGPT1(NM_001146.4):c.228G>A (p.P76=), ANGPT1(NM_001146.5):c.228G>A (p.P76=) - ANGPT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.228G>A r.(?) p.(Pro76=) Unknown - benign g.108509559C>T - ANGPT1(NM_001146.4):c.228G>A (p.P76=), ANGPT1(NM_001146.5):c.228G>A (p.P76=) - ANGPT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.228G>A r.(?) p.(Pro76=) Unknown - likely benign g.108509559C>T - ANGPT1(NM_001146.4):c.228G>A (p.P76=), ANGPT1(NM_001146.5):c.228G>A (p.P76=) - ANGPT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.228G>T r.(?) p.(Pro76=) Unknown - likely benign g.108509559C>A - ANGPT1(NM_001146.5):c.228G>T (p.P76=) - ANGPT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.355G>T r.(?) p.(Ala119Ser) Unknown ACMG pathogenic (dominant) g.108359268C>A g.107347040C>A - - ANGPT1_000007 The heterozygous state has been mimicked in HUVEC cells. The p.Ala119Ser variant significantly reduced the capability to bind its natural receptor (80.7% of normal), less than the homozygous condition (59.1%). After stimulation of VEGF or bradykinin, the addition to equimolar amounts of wtANGPT1 and ANGPT1 p.Ala119Ser clearly reduced the expression of VE‐cadherin on the endothelial cell surface (31% and 24%, respectively). Cell surface expression of β‐catenin was reduced and severe gap formation between adjacent HUVECs developed. Ascribed by ClinVar and OMIM to angioedema, hereditary 5, HAE5. Journal: Bafunno 2018 Journal: d'Apolito 2019 ClinVar-SCV001162304.3 rs764987358 Germline yes 0.000008 - - - DNA SEQ-NG - - HAE3 - Journal: Bafunno 2018 - F no Italy - - - - - 4 Christian Drouet
-?/. - c.747G>A r.(?) p.(Lys249=) Unknown - likely benign g.108334185C>T - ANGPT1(NM_001146.5):c.747G>A (p.K249=) - ANGPT1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.809-5del r.spl? p.? Unknown - benign g.108315614del g.107303386del ANGPT1(NM_001146.5):c.809-5delT - ANGPT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.809-5dup r.spl? p.? Unknown - benign g.108315614dup g.107303386dup ANGPT1(NM_001146.5):c.809-5dupT - ANGPT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.1110G>C r.(?) p.(Gln370His) Unknown ACMG VUS g.108297005C>G g.107284777C>G - - ANGPT1_000008 Brazilan pedigree with heterozygous carriers of a c.1110G>C variant Incomplete penetrance: 5/8 carriers have been found clinically affected Gln370 residue does not interact with nearby aminoacids but a point mutation to a His could cause repulsion due to proximity of Arg391 PubMed: Veronez 2021, Journal: Veronez 2021 VCV000979220.1 rs200226727 Germline yes 0.000263 (ALFA allele frequency) - - - DNA SEQ blood - HAE3 patient PubMed: Veronez 2021, Journal: Veronez 2021 pedigree with heterozygous carriers, incomplete penetrance: 5/8 carriers have been found clinically affected - - Brazil - - - - - 5 Christian Drouet
?/. - c.1146G>T r.(?) p.(Gly382=) Unknown - VUS g.108296969C>A - ANGPT1(NM_001146.4):c.1146G>T (p.G382=) - ANGPT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.1151G>A r.(?) p.(Arg384Gln) Unknown - likely benign (dominant) g.108296964C>T g.107284736C>T - - ANGPT1_000009 An Arg to Gln transition at position 384 may interfere in nthe stability of beta-sheets in the subdomain B, because 2 H-bonding between Arg384 and Met378. Conflicting interpretations of pathogenicity​ PubMed: Veronez 2021, Journal: Veronez 2021 ClinVar-VCV000778400.7 rs146465357 Germline ? - - - - DNA SEQ blood - HAE3 - PubMed: Veronez 2021, Journal: Veronez 2021 A single affected individual has been found as carrying a c.1151G>A in the PLG gene F - Brazil - - - - - 1 Christian Drouet
-?/. - c.1151G>A r.(?) p.(Arg384Gln) Unknown - likely benign g.108296964C>T - ANGPT1(NM_001146.4):c.1151G>A (p.R384Q), ANGPT1(NM_001146.5):c.1151G>A (p.R384Q) - ANGPT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1151G>A r.(?) p.(Arg384Gln) Unknown - likely benign g.108296964C>T - ANGPT1(NM_001146.4):c.1151G>A (p.R384Q), ANGPT1(NM_001146.5):c.1151G>A (p.R384Q) - ANGPT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1206-15dup r.(=) p.(=) Unknown - likely benign g.108276601dup - ANGPT1(NM_001146.5):c.1206-15dupT - ANGPT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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