Full data view for gene AGT

Information The variants shown are described using the NM_000029.3 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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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.-190G>A r.(?) p.(=) Unknown - benign g.230850018C>T g.230714272C>T - - AGT_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-58A>C r.(?) p.(=) Unknown - benign g.230849886T>G g.230714140T>G - - AGT_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-44G>A r.(?) p.(=) Unknown - benign g.230849872C>T g.230714126C>T - - AGT_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4+17C>T r.(=) p.(=) Unknown - likely benign g.230849815G>A - AGT(NM_000029.4):c.-4+17C>T - AGT_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.127C>T r.(?) p.(Leu43Phe) Unknown - likely benign g.230846470G>A g.230710724G>A AGT(NM_000029.3):c.127C>T (p.L43F, p.(Leu43Phe)) - AGT_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.127C>T r.(?) p.(Leu43Phe) Unknown - VUS g.230846470G>A - AGT(NM_000029.3):c.127C>T (p.L43F, p.(Leu43Phe)) - AGT_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.151T>C r.(?) p.(Cys51Arg) Parent #1 - VUS g.230846446A>G g.230710700A>G - - AGT_000022 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61731497 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.151T>C r.(?) p.(Cys51Arg) Unknown - likely benign g.230846446A>G - AGT(NM_000029.4):c.151T>C (p.C51R) - AGT_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.217C>T r.(?) p.(Gln73*) Unknown - VUS g.230846380G>A - AGT(NM_000029.3):c.217C>T (p.(Gln73*)) - AGT_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273C>T r.(?) p.(=) Unknown - likely benign g.230846324G>A - AGT(NM_000029.4):c.273C>T (p.V91=) - AGT_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.319G>A r.(?) p.(Gly107Arg) Paternal (confirmed) - pathogenic g.230846278C>T g.230710532C>T - - AGT_000005 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Tunisia - - - - - 1 Olivier Gribouval
+/? 2 c.319G>A r.(?) p.(Gly107Arg) Maternal (confirmed) - pathogenic g.230846278C>T g.230710532C>T - - AGT_000005 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Tunisia - - - - - 1 Olivier Gribouval
-?/. - c.410C>T r.(?) p.(Thr137Met) Unknown - likely benign g.230846187G>A - AGT(NM_000029.4):c.410C>T (p.T137M) - AGT_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.604C>T r.(?) p.(Gln202*) Parent #1 - pathogenic g.230845993G>A g.230710247G>A - - AGT_000001 - PubMed: Uematsu 2006 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Uematsu 2006 - - ? Japan - - - - - 1 Olivier Gribouval
-?/. - c.696T>C r.(?) p.(Pro232=) Unknown - likely benign g.230845901A>G g.230710155A>G AGT(NM_000029.3):c.696T>C (p.P232=), AGT(NM_000029.4):c.696T>C (p.P232=) - AGT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.696T>C r.(?) p.(Pro232=) Unknown - likely benign g.230845901A>G - AGT(NM_000029.3):c.696T>C (p.P232=), AGT(NM_000029.4):c.696T>C (p.P232=) - AGT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.710G>T r.(?) p.(Arg237Leu) Unknown - VUS g.230845887C>A - AGT(NM_000029.3):c.710G>T (p.(Arg237Leu)) - AGT_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.736G>A r.(?) p.(Val246Ile) Unknown - likely benign g.230845861C>T - AGT(NM_000029.3):c.736G>A (p.V246I) - AGT_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.803T>C r.(?) p.(Met268Thr) Unknown - benign g.230845794A>G g.230710048A>G AGT(NM_001382817.3):c.776T>C (p.M259T) - AGT_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.803T>C r.(?) p.(Met268Thr) Unknown - benign g.230845794A>G g.230710048A>G AGT(NM_001382817.3):c.776T>C (p.M259T) - AGT_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.820A>T r.(?) p.(Ser274Cys) Unknown - VUS g.230845777T>A - AGT(NM_000029.3):c.820A>T (p.S274C) - AGT_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.842A>G r.(?) p.(Tyr281Cys) Unknown - likely benign g.230845755T>C g.230710009T>C AGT(NM_000029.3):c.842A>G (p.Y281C, p.(Tyr281Cys)) - AGT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.842A>G r.(?) p.(Tyr281Cys) Unknown - likely benign g.230845755T>C - AGT(NM_000029.3):c.842A>G (p.Y281C, p.(Tyr281Cys)) - AGT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.842A>G r.(?) p.(Tyr281Cys) Unknown - VUS g.230845755T>C g.230710009T>C 842T>C - AGT_000010 - PubMed: Duvvari 2016 - rs56073403 Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Pat12AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - 1 LOVD
+/? 2 c.854A>C r.(?) p.(Gln285Pro) Paternal (inferred) - pathogenic g.230845743T>G g.230709997T>G - - AGT_000003 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - yes - North Africa - - - - 1 Olivier Gribouval
+/? 2 c.854A>C r.(?) p.(Gln285Pro) Maternal (inferred) - pathogenic g.230845743T>G g.230709997T>G - - AGT_000003 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - yes - North Africa - - - - 1 Olivier Gribouval
-?/. - c.885C>T r.(?) p.(Ala295=) Unknown - likely benign g.230841918G>A - AGT(NM_000029.3):c.885C>T (p.A295=) - AGT_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.912C>T r.(?) p.(=) Unknown - likely benign g.230841891G>A - AGT(NM_000029.4):c.912C>T (p.N304=) - AGT_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.979G>C r.(?) p.(Asp327His) Unknown - likely benign g.230841824C>G - AGT(NM_000029.3):c.979G>C (p.(Asp327His)) - AGT_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1116A>G r.(?) p.(Leu372=) Unknown - benign g.230841687T>C g.230705941T>C AGT(NM_001382817.3):c.1089A>G (p.L363=) - AGT_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1116A>G r.(?) p.(Leu372=) Unknown - benign g.230841687T>C g.230705941T>C AGT(NM_001382817.3):c.1089A>G (p.L363=) - AGT_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.1124G>A r.spl p.(Arg375Gln) Paternal (confirmed) - pathogenic g.230841679C>T g.230705933C>T - - AGT_000004 abnormal splicing PubMed: Gribouval 2005 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gribouval 2005 - - ? Turkey - - - - - 1 Olivier Gribouval
+/? 3 c.1124G>A r.spl p.(Arg375Gln) Maternal (confirmed) - pathogenic g.230841679C>T g.230705933C>T - - AGT_000004 abnormal splicing PubMed: Gribouval 2005 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gribouval 2005 - - ? Turkey - - - - - 1 Olivier Gribouval
-?/. - c.1174C>A r.(?) p.(Leu392Met) Unknown - likely benign g.230840034G>T g.230704288G>T AGT(NM_000029.3):c.1174C>A (p.L392M, p.(Leu392Met)), AGT(NM_000029.4):c.1174C>A (p.L392M) - AGT_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1174C>A r.(?) p.(Leu392Met) Unknown - VUS g.230840034G>T - AGT(NM_000029.3):c.1174C>A (p.L392M, p.(Leu392Met)), AGT(NM_000029.4):c.1174C>A (p.L392M) - AGT_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1174C>A r.(?) p.(Leu392Met) Unknown - likely benign g.230840034G>T - AGT(NM_000029.3):c.1174C>A (p.L392M, p.(Leu392Met)), AGT(NM_000029.4):c.1174C>A (p.L392M) - AGT_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1269+118G>A r.(=) p.(=) Unknown - benign g.230839821C>T g.230704075C>T AGT(NM_000029.4):c.1269+118G>A - AGT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.1290del r.(?) p.(Phe430Leufs*25) Parent #2 - pathogenic g.230839062del g.230703316del - - AGT_000002 - {PMID17036344:Uematsu 2006} - - Germline - - - - - DNA SEQ - - RTD - PubMed: Uematsu 2006 - - ? Japan - - - - - 1 Olivier Gribouval
-?/. - c.1301C>T r.(?) p.(Ala434Val) Unknown - likely benign g.230839044G>A g.230703298G>A AGT(NM_000029.3):c.1301C>T (p.A434V) - AGT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1325C>T r.(?) p.(Ser442Phe) Unknown - likely benign g.230839020G>A - AGT(NM_000029.4):c.1325C>T (p.S442F) - AGT_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.1372C>T r.(?) p.(Arg458Cys) Paternal (confirmed) - pathogenic g.230838973G>A g.230703227G>A - - AGT_000006 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Tunisia - - - - - 1 Olivier Gribouval
+/? 5 c.1372C>T r.(?) p.(Arg458Cys) Maternal (confirmed) - pathogenic g.230838973G>A g.230703227G>A - - AGT_000006 - PubMed: Gibrouval 2012 - - Germline - - - - - DNA SEQ - - RTD - PubMed: Gibrouval 2012 - - ? Tunisia - - - - - 1 Olivier Gribouval
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