Full data view for gene AGPAT2

Information The variants shown are described using the NM_006412.3 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.47_48insCTG r.(?) p.(Leu16_Leu17insTrp) Unknown - benign g.139581762_139581763insCAG g.136687310_136687311insCAG AGPAT2(NM_006412.4):c.47_48insCTG (p.L16_L17insW) - AGPAT2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.52_54dup r.(?) p.(Val18dup) Unknown - likely pathogenic g.139581758_139581760dup g.136687306_136687308dup 50_52dup - AGPAT2_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CRC - - - - - - - - - - - 1 Jessada Thutkawkorapin
+?/. - c.52_54dup r.(?) p.(Val18dup) Unknown - likely pathogenic g.139581758_139581760dup g.136687306_136687308dup 50_52dup - AGPAT2_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CRC - - - - - - - - - - - 1 Jessada Thutkawkorapin
?/. - c.86A>G r.(?) p.(Lys29Arg) Unknown - VUS g.139581724T>C g.136687272T>C AGPAT2(NM_006412.4):c.86A>G (p.K29R) - AGPAT2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.144C>A r.(?) p.(Cys48*) Both (homozygous) - pathogenic (recessive) g.139581666G>T g.136687214G>T - - AGPAT2_000016 - PubMed: Akinci 2016 - - Germline - - - - - DNA SEQ - - CGL Fam2Pat1 PubMed: Akinci 2016 2-generation family, 2 affected, unaffected heterozygous carrier parents F - Turkey - - - - see paper 2 Johan den Dunnen
+/. - c.144C>A r.(?) p.(Cys48*) Both (homozygous) - pathogenic (recessive) g.139581666G>T g.136687214G>T - - AGPAT2_000016 - PubMed: Akinci 2016 - - Germline - - - - - DNA SEQ - - CGL Fam2Pat2 PubMed: Akinci 2016 - M - Turkey - - - - see paper 1 Johan den Dunnen
+/. - c.144C>A r.(?) p.(Cys48*) Both (homozygous) - pathogenic (recessive) g.139581666G>T g.136687214G>T - - AGPAT2_000016 - PubMed: Akinci 2016 - - Germline - - - - - DNA SEQ - - CGL Fam3Pat1 PubMed: Akinci 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - see paper 1 Johan den Dunnen
-?/. - c.182+6G>A r.(=) p.(=) Unknown - likely benign g.139581622C>T g.136687170C>T AGPAT2(NM_006412.3):c.182+6G>A - AGPAT2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.182+8C>T r.(=) p.(=) Unknown - likely benign g.139581620G>A - AGPAT2(NM_001012727.1):c.182+8C>T (p.(=)), AGPAT2(NM_006412.3):c.182+8C>T - AGPAT2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.182+8C>T r.(=) p.(=) Unknown - likely benign g.139581620G>A - AGPAT2(NM_001012727.1):c.182+8C>T (p.(=)), AGPAT2(NM_006412.3):c.182+8C>T - AGPAT2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.202C>T r.(?) p.(Arg68Ter) Unknown - pathogenic g.139571989G>A g.136677537G>A AGPAT2(NM_006412.3):c.202C>T (p.R68*), AGPAT2(NM_006412.4):c.202C>T (p.R68*) - AGPAT2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.202C>T r.(?) p.(Arg68*) Both (homozygous) - pathogenic (recessive) g.139571989G>A g.136677537G>A - - AGPAT2_000003 - PubMed: Akinci 2016 - - Germline - - - - - DNA SEQ - - CGL Fam4Pat1 PubMed: Akinci 2016 2-generation family, 2 affected, unaffected heterozygous carrier parents F - Turkey - - - - see paper 2 Johan den Dunnen
+/. - c.202C>T r.(?) p.(Arg68*) Both (homozygous) - pathogenic (recessive) g.139571989G>A g.136677537G>A - - AGPAT2_000003 - PubMed: Akinci 2016 - - Germline - - - - - DNA SEQ - - CGL Fam4Pat2 PubMed: Akinci 2016 - M - Turkey - - - - see paper 1 Johan den Dunnen
+/. - c.202C>T r.(?) p.(Arg68Ter) Unknown - pathogenic g.139571989G>A g.136677537G>A AGPAT2(NM_006412.3):c.202C>T (p.R68*), AGPAT2(NM_006412.4):c.202C>T (p.R68*) - AGPAT2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.202C>T r.(?) p.(Arg68Ter) Unknown - pathogenic g.139571989G>A - AGPAT2(NM_006412.3):c.202C>T (p.R68*), AGPAT2(NM_006412.4):c.202C>T (p.R68*) - AGPAT2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.268del r.(?) p.(Arg90Valfs*15) Both (homozygous) - pathogenic (recessive) g.139571925del g.136677473del - - AGPAT2_000015 - PubMed: Akinci 2016 - - Germline - - - - - DNA SEQ - - CGL Fam8Pat1 PubMed: Akinci 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - see paper 1 Johan den Dunnen
-?/. - c.282C>T r.(?) p.(Ile94=) Unknown - likely benign g.139571909G>A g.136677457G>A AGPAT2(NM_006412.3):c.282C>T (p.I94=) - EGFL7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.316+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.139571874C>A g.136677422C>A - - AGPAT2_000010 - - - - Germline yes - - - - DNA SEQ-NG-I - - CGL1 - - - - - - - - - - - 1 Nilay Gunes
+/. - c.316+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.139571874C>A g.136677422C>A - - AGPAT2_000010 - PubMed: Akinci 2016 - - Germline - - - - - DNA SEQ - - CGL Fam9Pat1 PubMed: Akinci 2016 2-generation family, 2 affected, unaffected heterozygous carrier parents M - Turkey - - - - see paper 2 Johan den Dunnen
+/. - c.316+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.139571874C>A g.136677422C>A - - AGPAT2_000010 - PubMed: Akinci 2016 - - Germline - - - - - DNA SEQ - - CGL Fam9Pat2 PubMed: Akinci 2016 - M - Turkey - - - - see paper 1 Johan den Dunnen
+?/. - c.335del r.(?) p.(Pro112Argfs*39) Both (homozygous) ACMG likely pathogenic g.139571571del g.136677119del AGPAT2,NM_006412.3,c.335del, p.Pro112Argfs*39 - AGPAT2_000020 homozygous PubMed: Alfares 2018 - - Unknown ? frequency in 1500 in-house samples: 0 - - - DNA SEQ-NG - exome sequencing done at a commercial CAPaccredited laboratory retinal disease 24 PubMed: Alfares 2018 - F - - - - - - - 1 LOVD
+/? 3 c.364G>T r.(?) p.(Glu122*) Paternal (inferred) - pathogenic g.139571541C>A g.136677089C>A 122E>stop - AGPAT2_000001 - - - - De novo - - - - - DNA arraySEQ - - CGL1 - - - F yes Iran - - - - - 1 Aida Rasoolzadeh
?/. - c.418_420del r.(?) p.(Phe140del) Unknown - VUS g.139571490_139571492del - AGPAT2(NM_006412.3):c.418_420delTTC (p.F140del) - EGFL7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.433C>A r.(?) p.(Arg145Ser) Unknown - likely benign g.139571472G>T g.136677020G>T AGPAT2(NM_001012727.1):c.433C>A (p.(Arg145Ser)), AGPAT2(NM_006412.3):c.433C>A (p.R145S) - AGPAT2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.433C>A r.(?) p.(Arg145Ser) Unknown - VUS g.139571472G>T - AGPAT2(NM_001012727.1):c.433C>A (p.(Arg145Ser)), AGPAT2(NM_006412.3):c.433C>A (p.R145S) - AGPAT2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.440G>T r.(?) p.(Ser147Ile) Unknown - likely benign g.139571465C>A - AGPAT2(NM_006412.3):c.440G>T (p.(Ser147Ile)) - EGFL7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.441C>A r.(?) p.(Ser147Arg) Unknown - likely benign g.139571464G>T - AGPAT2(NM_006412.3):c.441C>A (p.(Ser147Arg)) - EGFL7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.475C>T r.(?) p.(Arg159Cys) Unknown - likely benign g.139571430G>A g.136676978G>A AGPAT2(NM_001012727.1):c.475C>T (p.(Arg159Cys)) - EGFL7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.475C>T r.(?) p.(Arg159Cys) Parent #1 - likely benign g.139571430G>A g.136676978G>A - - EGFL7_000004 38 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142993240 Germline - 38/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 38 Mohammed Faruq
-?/. - c.529G>A r.(?) p.(Asp177Asn) Unknown - likely benign g.139571096C>T g.136676644C>T - - EGFL7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.589-2A>G r.spl? p.? Unknown - pathogenic g.139569261T>C - AGPAT2(NM_006412.4):c.589-2A>G - EGFL7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.589-2A>G r.spl? p.? Unknown - pathogenic g.139569261T>C - AGPAT2(NM_006412.4):c.589-2A>G - EGFL7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.604G>A r.(?) p.(Val202Met) Unknown - VUS g.139569244C>T - AGPAT2(NM_006412.3):c.604G>A (p.V202M) - EGFL7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.646A>T r.(?) p.(Lys216*) Both (homozygous) - pathogenic (recessive) g.139569202T>A g.136674750T>A - - AGPAT2_000014 - PubMed: Akinci 2016 - - Germline - - - - - DNA SEQ - - CGL Fam6Pat1 PubMed: Akinci 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - see paper 1 Johan den Dunnen
?/. - c.646A>T r.(?) p.(Lys216Ter) Unknown - VUS g.139569202T>A - AGPAT2(NM_006412.3):c.646A>T (p.K216*), AGPAT2(NM_006412.4):c.646A>T (p.K216*) - AGPAT2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.646A>T r.(?) p.(Lys216Ter) Unknown - pathogenic g.139569202T>A - AGPAT2(NM_006412.3):c.646A>T (p.K216*), AGPAT2(NM_006412.4):c.646A>T (p.K216*) - AGPAT2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.662-2A>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.139568381T>G g.136673929T>G - - AGPAT2_000013 - PubMed: Akinci 2016 - - Germline - - - - - DNA SEQ - - CGL Fam1Pat1 PubMed: Akinci 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - see paper 1 Johan den Dunnen
+/. - c.667_705delinsCTGCG r.(?) p.(Val223Leufs*19) Both (homozygous) - pathogenic (recessive) g.139568336_139568374delinsCGCAG g.136673884_136673922delinsCGCAG - - AGPAT2_000011 - PubMed: Akinci 2016 - - Germline - - - - - DNA SEQ - - CGL Fam7Pat1 PubMed: Akinci 2016 2-generation family, 2 affected, unaffected heterozygous carrier parents F - Turkey - - - - see paper 2 Johan den Dunnen
+/. - c.667_705delinsCTGCG r.(?) p.(Val223Leufs*19) Both (homozygous) - pathogenic (recessive) g.139568336_139568374delinsCGCAG g.136673884_136673922delinsCGCAG - - AGPAT2_000011 - PubMed: Akinci 2016 - - Germline - - - - - DNA SEQ - - CGL Fam7Pat2 PubMed: Akinci 2016 - M - Turkey - - - - see paper 1 Johan den Dunnen
+/. - c.685G>T r.(?) p.(Glu229*) Both (homozygous) - pathogenic (recessive) g.139568356C>A g.136673904C>A - - AGPAT2_000012 - PubMed: Akinci 2016 - - Germline - - - - - DNA SEQ - - CGL Fam5Pat1 PubMed: Akinci 2016 2-generation family, 3 affected, unaffected heterozygous carrier parents F - Turkey - - - - see paper 3 Johan den Dunnen
+/. - c.685G>T r.(?) p.(Glu229*) Both (homozygous) - pathogenic (recessive) g.139568356C>A g.136673904C>A - - AGPAT2_000012 - PubMed: Akinci 2016 - - Germline - - - - - DNA SEQ - - CGL Fam5Pat2 PubMed: Akinci 2016 - F - Turkey - - - - see paper 1 Johan den Dunnen
+/. - c.685G>T r.(?) p.(Glu229*) Both (homozygous) - pathogenic (recessive) g.139568356C>A g.136673904C>A - - AGPAT2_000012 - PubMed: Akinci 2016 - - Germline - - - - - DNA SEQ - - CGL Fam5Pat3 PubMed: Akinci 2016 - F - Turkey - - - - see paper 1 Johan den Dunnen
+/. - c.685G>T r.(?) p.(Glu229*) Both (homozygous) - pathogenic (recessive) g.139568356C>A g.136673904C>A - - AGPAT2_000012 - PubMed: Akinci 2016 - - Germline - - - - - DNA SEQ - - CGL Fam10Pat1 PubMed: Akinci 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - - - see paper 1 Johan den Dunnen
-/. - c.702C>T r.(?) p.(Ser234=) Unknown - benign g.139568339G>A - AGPAT2(NM_001012727.1):c.606C>T (p.(Ser202=)) - EGFL7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.714G>A r.(?) p.(Ala238=) Unknown - VUS g.139568327C>T g.136673875C>T AGPAT2(NM_006412.3):c.714G>A (p.A238=) - AGPAT2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.732C>T r.(?) p.(=) Unknown - likely benign g.139568309G>A - AGPAT2(NM_001012727.1):c.636C>T (p.(Leu212=)) - EGFL7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.788C>T r.(?) p.(Pro263Leu) Unknown - VUS g.139568253G>A g.136673801G>A AGPAT2(NM_006412.3):c.788C>T (p.P263L) - EGFL7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5167C>T r.(=) p.(=) Unknown - likely benign g.139563037G>A - EGFL7(NM_016215.5):c.109G>A (p.(Gly37Arg)) - EGFL7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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