Full data view for gene AGK

Information The variants shown are described using the NM_018238.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.-15+6T>C r.(=) p.(=) Unknown - likely benign g.141251240T>C g.141551440T>C AGK(NM_018238.4):c.-15+6T>C - AGK_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.17A>G r.(?) p.(Lys6Arg) Unknown - likely benign g.141255283A>G g.141555483A>G AGK(NM_018238.4):c.17A>G (p.K6R) - AGK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.29A>G r.(?) p.(Asn10Ser) Unknown - VUS g.141255295A>G g.141555495A>G - - AGK_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.48A>G r.(?) p.(Thr16=) Unknown - likely benign g.141255314A>G - AGK(NM_018238.4):c.48A>G (p.T16=) - AGK_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.55C>T r.(?) p.(Leu19Phe) Unknown - likely benign g.141255321C>T - AGK(NM_018238.4):c.55C>T (p.L19F) - AGK_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.89A>G r.(?) p.(Tyr30Cys) Unknown - likely benign g.141255355A>G g.141555555A>G AGK(NM_018238.3):c.89A>G (p.(Tyr30Cys)) - AGK_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.248dup r.(?) p.(Asn83Lysfs*17) Unknown - pathogenic g.141301031dup - AGK(NM_018238.4):c.248dupA (p.N83Kfs*17) - AGK_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.257C>T r.(?) p.(Pro86Leu) Unknown - VUS g.141301040C>T - AGK(NM_018238.4):c.257C>T (p.P86L) - AGK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.331G>C r.(?) p.(Glu111Gln) Unknown - VUS g.141311028G>C g.141611228G>C AGK(NM_018238.4):c.331G>C (p.E111Q) - AGK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.331G>C r.(?) p.(Glu111Gln) Unknown - likely benign g.141311028G>C - AGK(NM_018238.4):c.331G>C (p.E111Q) - AGK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.409C>T r.(?) p.(Arg137Ter) Unknown - pathogenic g.141313964C>T g.141614164C>T - - AGK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.424-4C>G r.spl? p.? Unknown - benign g.141315267C>G g.141615467C>G AGK(NM_018238.4):c.424-4C>G - AGK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7i c.424-3C>G r.424_518del p.Ala142Thrfs*4 Both (homozygous) - pathogenic (recessive) g.141315268C>G g.141615468C>G 422-3C>G - AGK_000001 - PubMed: Aldahmesh 2012, PubMed: Aldahmesh 2012, PubMed: Khan 2015 - - Germline yes - - - - DNA, RNA arraySNP, PCR, RT-PCR, SEQ, SEQ-NG - WES CCTRCT family;Cata_DGU-12;Fam17 PubMed: Aldahmesh 2012, PubMed: Aldahmesh 2012, PubMed: Khan 2015 5-generation family, 3 affected sibs (F, 2M), unaffected heterozygous parents (2nd cousin parents) F;M yes Saudi Arabia Arab - - - - 3 Fowzan Alkuraya
+/. - c.424-3C>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.141315268C>G g.141615468C>G - - AGK_000001 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 06-00549 PubMed: Patel 2017 family - - - - - - - - 3 Johan den Dunnen
?/. - c.438G>T r.(?) p.(Lys146Asn) Unknown - VUS g.141315285G>T - AGK(NM_018238.4):c.438G>T (p.K146N) - AGK_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.498C>T r.(?) p.(Ala166=) Unknown - likely benign g.141315345C>T g.141615545C>T AGK(NM_018238.4):c.498C>T (p.A166=) - AGK_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.754A>G r.(?) p.(Ile252Val) Unknown - likely benign g.141341075A>G g.141641275A>G AGK(NM_018238.4):c.754A>G (p.I252V) - AGK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.952C>T r.(?) p.(Arg318Trp) Parent #1 - VUS g.141341685C>T g.141641885C>T - - AGK_000022 - PubMed: Reis 2013 - - Germline no - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat19 PubMed: Reis 2013 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.954G>A r.(?) p.(Arg318=) Unknown - likely benign g.141341687G>A g.141641887G>A AGK(NM_018238.4):c.954G>A (p.R318=) - AGK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.972G>A r.(?) p.(Pro324=) Unknown - likely benign g.141341705G>A g.141641905G>A - - AGK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1039_1044del r.(?) p.(Thr347_Ile348del) Unknown - VUS g.141349126_141349131del - AGK(NM_018238.4):c.1039_1044delACTATA (p.T347_I348del) - AGK_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1131+5G>A r.spl? p.? Unknown - VUS g.141351414G>A g.141651614G>A AGK(NM_018238.4):c.1131+5G>A - AGK_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1161_1164del r.(?) p.(Ser387Argfs*10) Unknown - pathogenic g.141352616_141352619del - AGK(NM_018238.4):c.1161_1164delTGAG (p.S387Rfs*10) - AGK_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1189G>A r.(?) p.(Val397Met) Unknown - VUS g.141352644G>A g.141652844G>A AGK(NM_018238.4):c.1189G>A (p.V397M) - AGK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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