All transcript variants in gene G6PD

NOTE: when referring to this database please cite Minucci 2012.
Information The variants shown are described using the transcript reference sequence.

11001 entries on 111 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     

Protein level     

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     

Owner     
?/. _1 c.-5146A>C VUS r.(?) p.(=) - - g.153780231T>G g.154552016T>G IKBKG(NM_001099856.3):c.218T>G (p.(Leu73Arg), p.(Leu5Arg)) - IKBKG_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. _1 c.-5119G>A likely benign r.(?) p.(=) - - g.153780204C>T - IKBKG(NM_001099856.4):c.191C>T (p.P64L) - IKBKG_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. _1_13_ c.-148_*609[2] pathogenic r.? p.? - - g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
+/. _1_13_ c.-148_*609[2] pathogenic r.? p.? - - g.153570408_153861108dup g.154342193_154632893dup GDI1 - FLNA_000307 - PubMed: Hu 2016 - - Germline - - - 0 - Johan den Dunnen
-?/. 1 c.20C>T likely benign r.(?) p.(Ala7Val) - - g.153775066G>A g.154546851G>A G6PD(NM_000402.4):c.20C>T (p.(Ala7Val)) - IKBKG_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. 1 c.20C>T likely benign r.(?) p.(Ala7Val) - - g.153775066G>A g.154546851G>A G6PD(NM_000402.4):c.20C>T (p.(Ala7Val)) - IKBKG_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. 1 c.48C>T likely benign r.(?) p.(=) - - g.153775038G>A g.154546823G>A G6PD(NM_000402.4):c.48C>T (p.G16=) - IKBKG_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. 1 c.59G>T likely benign r.(?) p.(Gly20Val) - - g.153775027C>A g.154546812C>A G6PD(NM_000402.4):c.59G>T (p.G20V) - IKBKG_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 c.71G>T benign r.(?) p.(Arg24Leu) - - g.153775015C>A g.154546800C>A G6PD(NM_000402.4):c.71G>T (p.(Arg24Leu)) - IKBKG_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. 1 c.71G>T likely benign r.(?) p.(Arg24Leu) - - g.153775015C>A g.154546800C>A G6PD(NM_000402.4):c.71G>T (p.(Arg24Leu)) - IKBKG_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 1i c.82+7G>C VUS r.spl? p.(?) - - g.153774997C>G g.154546782C>G G6PD(NM_000402.4):c.82+7G>C (p.(=)) - IKBKG_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. 1i c.82+7G>C likely benign r.spl? p.(?) - - g.153774997C>G g.154546782C>G G6PD(NM_000402.4):c.82+7G>C (p.(=)) - IKBKG_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 c.97G>A pathogenic r.(?) p.(Glu33Lys) - - g.153774364C>T g.154546149C>T - - G6PD_000181 - PubMed: Hue 2009 - - Germline - - - - - Ettore Capoluongo
?/. - c.115C>T - r.(?) p.(Arg39Trp) - - g.153774346G>A g.154546131G>A - - IKBKG_000094 - PubMed: Hamada 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.124G>T pathogenic r.(?) p.(Val42Leu) - - g.153774337C>A g.154546122C>A - - G6PD_000128 WHO classification-Class III PubMed: Galanello 1997 - - Germline - - BsrI+ - - Ettore Capoluongo
+/. 2 c.130G>A pathogenic r.(?) p.(Gly44Arg) - - g.153774331C>T g.154546116C>T - - G6PD_000122 WHO classification-Class III PubMed: Weimer 1998 - - Germline - - HpyCH4V+ - - Ettore Capoluongo
+/. 2 c.184C>G pathogenic r.(?) p.(His62Asp) - - g.153774277G>C g.154546062G>C - - G6PD_000171 - PubMed: Nuchprayoon 2008 - - Germline - - - - - Ettore Capoluongo
+/. 2 c.185A>G pathogenic r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 WHO classification-Class III PubMed: Chao 1991 - - Germline - - - - - Ettore Capoluongo
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
+/. - c.185A>G - r.(?) p.(His62Arg) - - g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - 0 - Lin Zou
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