Full data view for gene OGT

Information The variants shown are described using the NM_181672.2 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.30C>G r.(?) p.(Asp10Glu) Unknown - VUS g.70753179C>G g.71533329C>G OGT(NM_181673.2):c.30C>G (p.D10E) - TAF1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.427G>A r.(?) p.(Val143Ile) Unknown - VUS g.70757887G>A - OGT(NM_181672.3):c.427G>A (p.V143I) - OGT_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.439G>A r.(?) p.(Val147Ile) Unknown - likely benign g.70757899G>A g.71538049G>A OGT(NM_181672.2):c.439G>A (p.(Val147Ile)) - OGT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.463-6T>G r.463_531del p.Asp155_Lys177del Maternal (confirmed) - pathogenic (recessive) g.70764411T>G g.70764411T>G - - OGT_000016 de novo variant in carrier grandmother Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Willems 2017 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ID Fam2Patient2 PubMed: Willems 2017 4-generation family, 1 affected, unaffected carrier mother/grandmother M yes - white >05y - - - 1 Joaquin De La Torre Vela
+/. - c.762G>T r.(?) p.(Leu254Phe) Maternal (confirmed) - likely pathogenic (recessive) g.70775073G>T g.71555223G>T 759G>T (L254F) - OGT_000018 - PubMed: Vaidyanathan 2017 - - Germline yes - - - - DNA SEQ - - ID FamK9427PatII-4 (P2) PubMed: Vaidyanathan 2017 4-generation family, 3 affected (M), 4 unaffected carrier females M yes United States - - - - - 3 Joaquin De La Torre Vela
+/. - c.762G>T r.(?) p.(Leu254Phe) Maternal (confirmed) - likely pathogenic (recessive) g.70775073G>T g.71555223G>T 759G>T (L254F) - OGT_000018 - PubMed: Vaidyanathan 2017 - - Germline yes - - - - DNA SEQ - - ID FamK9427urIII-4 (P1) PubMed: Vaidyanathan 2017 - M yes United States - - - - - 1 Joaquin De La Torre Vela
+/. - c.762G>T r.(?) p.(Leu254Phe) Maternal (confirmed) - likely pathogenic (recessive) g.70775073G>T g.71555223G>T 759G>T (L254F) - OGT_000018 - PubMed: Vaidyanathan 2017 - - Germline yes - - - - DNA SEQ - - ID FamK9427PatIV-1 PubMed: Vaidyanathan 2017 - M yes United States - - - - - 1 Joaquin De La Torre Vela
?/. - c.775G>A r.(?) p.(Ala259Thr) Maternal (confirmed) ACMG VUS g.70775086G>A g.71555236G>A - - OGT_000017 - - - - Germline - - - - - DNA SEQ-NG - WES seizures Pat121 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.775G>A r.(?) p.(Ala259Thr) Maternal (confirmed) - pathogenic (recessive) g.70775086G>A g.71555236G>A - - OGT_000017 - PubMed: Selvan 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID Pat1 PubMed: Selvan 2018 3-generation family, 1 affected, unaffected carrier mother M - Germany Germany; Scandinavia - - - - 1 Johan den Dunnen
+/. - c.851G>C r.(?) p.(Arg284Pro) Maternal (confirmed) - likely pathogenic (recessive) g.70775162G>C g.71555312G>C - - OGT_000015 - PubMed: Willems 2017 - - De novo - - - - - DNA SEQ - - ID Fam1Patient1 PubMed: Willems 2017 2-generation family, 1 affected, unaffected non-carrier parents M yes - White >05y - - - 1 Joaquin De La Torre Vela
?/. - c.853G>A r.(?) p.(Ala285Thr) Unknown - VUS g.70775164G>A - OGT(NM_181672.3):c.853G>A (p.A285T) - OGT_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.955G>A r.(?) p.(Ala319Thr) Maternal (confirmed) - VUS g.70775834G>A g.71555984G>A - - OGT_000019 - PubMed: Bouazzi 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - exome X-chromosome ID family PubMed: Bouazzi 2015 2-generation family, 3 affected brothers, heterozygous unaffected mother M - France - - - - - 3 Johan den Dunnen
+/. - c.1016A>G r.(?) p.(Glu339Gly) Unknown - pathogenic (recessive) g.70775895A>G g.71556045A>G - - OGT_000020 - PubMed: Selvan 2018 - - Germline yes - - - - DNA SEQ - exome X-chromosome ID FamPat2/3 PubMed: Selvan 2018 4-generation family,5 affected (5M), unaffected heterozygous carrier females M - Netherlands - - - - - 5 Johan den Dunnen
?/. - c.1167-3del r.spl? p.? Unknown - VUS g.70776799del g.71556949del OGT(NM_181672.2):c.1167-6delT (p.(=)) - OGT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1389T>A r.(?) p.(Pro463=) Unknown - likely benign g.70777113T>A - OGT(NM_181673.2):c.1359T>A (p.P453=) - OGT_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1500T>C r.(=) p.(=) Parent #1 - likely benign g.70777420T>C g.71557570T>C N490N - OGT_000006 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.1708A>G r.(?) p.(Thr570Ala) Parent #1 - VUS g.70779222A>G g.71559372A>G - - OGT_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1773T>C r.(=) p.(=) Parent #1 - likely benign g.70779449T>C g.71559599T>C Y581Y - OGT_000008 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. - c.1942A>T r.(?) p.(Asn648Tyr) Unknown - likely pathogenic g.70781715A>T g.71561865A>T - - OGT_000010 - PubMed: Pravata 2020, PubMed: Pravata 2020, Journal: Pravata 2020 - - De novo - - - - - DNA SEQ-NG-I blood WES, WGS CDG PatET PubMed: Pravata 2020, PubMed: Pravata 2020, Journal: Pravata 2020 2-generation family, 1 affected, unaffected non-carrier parents/relatives M no Estonia - >07y - - - 1 Sander Pajusalu
+/. - c.1942A>T r.(?) p.(Asn648Tyr) Unknown - pathogenic (recessive) g.70779215T>A - - - OGT_000010 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Pravata 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - - ID twins PubMed: Pravata 2019 2-generation family, 1 affected twin pair, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
?/. - c.2326G>A r.(?) p.(Val776Ile) Unknown - VUS g.70783239G>A g.71563389G>A OGT(NM_181672.3):c.2326G>A (p.V776I) - OGT_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2600G>A r.(?) p.(Arg867His) Unknown - VUS g.70787360G>A g.71567510G>A OGT(NM_181672.3):c.2600G>A (p.R867H) - OGT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2841A>G r.(=) p.(=) Parent #1 - likely benign g.70787601A>G g.71567751A>G P937P - OGT_000009 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.3057C>A r.(?) p.(Leu1019=) Unknown - likely benign g.70793560C>A g.71573710C>A OGT(NM_181672.3):c.3057C>A (p.L1019=) - OGT_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*856dup r.(=) p.(=) Unknown - VUS g.70794500dup g.71574650dup - - OGT_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*959del r.(=) p.(=) Unknown - VUS g.70794603del g.71574753del - - OGT_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*959del r.(=) p.(=) Unknown - VUS g.70794603del g.71574753del - - OGT_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*976_*977dup r.(=) p.(=) Unknown - VUS g.70794620_70794621dup g.71574770_71574771dup - - OGT_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.*7056G>T r.(=) p.(=) Unknown - likely benign g.70800700G>T g.71580850G>T ACRC(NM_052957.4):c.29G>T (p.R10L) - OGT_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7064G>A r.(=) p.(=) Unknown - likely benign g.70800708G>A - GCNA(NM_052957.4):c.37G>A (p.E13K) - OGT_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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