Full data view for gene G6PC

Information The variants shown are described using the NM_000151.3 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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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     
+/. _1_1i c.(?_-80)_(230+19_231-1)del r.0? p.0? Paternal (confirmed) - pathogenic g.(41000000_41050890)_(41053142_41055947)del - g.41050890_41053142del - G6PC_000013 - PubMed: Giugliano 2018 - - Germline - - - 0 - DNA arrayCGH - - MYOP Patient XX PubMed: Giugliano 2018 - M - Italy - - 0 - - 1 Teresa Giugliano
-?/. - c.-77G>A r.(?) p.(=) Unknown - likely benign g.41052817G>A - G6PC(NM_001270397.2):c.-77G>A - G6PC_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i_5_ c.(340+1_341-1)_*3007{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.(41056058_41059539)_(41066450_?)del - E3-E5 del - G6PC_000038 - PubMed: Wang 2013 - - Germline - - - 0 - DNA SEQ - - GSD P1 PubMed: Wang 2013 - M - United States - - 0 - - 1 LOVD
+?/. - c.79del r.(?) p.(Gln27ArgfsTer9) Unknown - likely pathogenic g.41052972del - G6PC1(NM_000151.2):c.79delC (p.Q27Rfs*9) - G6PC_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.79del r.(?) p.(Gln27ArgfsTer9) Unknown - pathogenic g.41052972del - G6PC1(NM_000151.2):c.79delC (p.Q27Rfs*9) - G6PC_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.96_97del r.(?) p.(Leu32Phefs*28) Unknown - likely pathogenic g.41052989_41052990del g.42900972_42900973del NM_000151.3(G6PC):c.96_97del p.(Leu32Phefs*28) - G6PC_000021 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - DNA SEQ-NG - - cancer, gastric Vogelaar-125A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - 0 - - 1 Marjolijn JL Ligtenberg
+/. - c.113A>T r.(?) p.(Asp38Val) Unknown - pathogenic g.41053006A>T - G6PC1(NM_000151.2):c.113A>T (p.D38V) - G6PC_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.132C>T r.(?) p.(Tyr44=) Unknown - likely benign g.41053025C>T - G6PC(NM_001270397.1):c.132C>T (p.Y44=) - G6PC_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.136C>T r.(?) p.(Leu46Phe) Unknown - likely benign g.41053029C>T g.42901012C>T G6PC(NM_000151.2):c.136C>T (p.L46F) - G6PC_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.181C>T r.(?) p.(Leu61Phe) Unknown - likely pathogenic g.41053074C>T g.42901057C>T NM_000151.3(G6PC):c.181C>T p.(Leu61Phe) - G6PC_000022 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - DNA SEQ-NG - - cancer, gastric Vogelaar-049A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - 0 - - 1 Marjolijn JL Ligtenberg
+/. - c.189G>A r.(?) p.(Trp63*) Unknown - pathogenic g.41053082G>A - G6PC1(NM_000151.2):c.189G>A (p.W63*) - G6PC_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.209G>A r.(?) p.(Trp70Ter) Unknown - pathogenic g.41053102G>A g.42901085G>A - - G6PC_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.231-4A>G r.spl? p.? Unknown - likely benign g.41055944A>G g.42903927A>G G6PC(NM_001270397.1):c.231-4A>G - G6PC_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.247C>T r.(?) p.(Arg83Cys) Unknown - pathogenic g.41055964C>T g.42903947C>T G6PC(NM_000151.2):c.247C>T (p.R83C), G6PC(NM_001270397.1):c.247C>T (p.R83C) - G6PC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 2 c.247C>T r.(?) p.(Arg83Cys) Unknown - pathogenic g.41055964C>T g.42903947C>T - - G6PC_000001 - - - - Unknown - - - 0 - DNA SEQ-NG-I, SEQ - - GSD1B - - - F - United Kingdom (Great Britain) - - 0 - - 1 Shu Yau
?/? 2 c.247C>T r.(?) p.(Arg83Cys) Unknown - VUS g.41055964C>T g.42903947C>T - - G6PC_000001 - - - rs1801175 Unknown - - - 0 - DNA SEQ - - Healthy/Control - - - - - - - - 0 - - 1 LOVD
+/? 2 c.247C>T r.(?) p.(Arg83Cys) Maternal (confirmed) - pathogenic g.41055964C>T g.42903947C>T 362C>T - G6PC_000001 - PubMed: Lei 1993, OMIM:var0002 - - Unknown - - - 0 - DNA SEQ - - GSD1A - - liver biopsy G6Pase activity undetectable - - United States - - 0 - - 1 LOVD
+/. - c.247C>T r.(?) p.(Arg83Cys) Parent #1 - pathogenic g.41055964C>T g.42903947C>T - - G6PC_000001 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1801175 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+?/. - c.247C>T r.(?) p.(Arg83Cys) Unknown - VUS g.41055964C>T - - - G6PC_000001 - PubMed: Razaq 2021 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - WES BMD/DMD, WEST patient PubMed: Razaq 2021 - M no United States Middle East;Hispanic - 0 - - 1 Johan den Dunnen
?/. - c.247C>T r.(?) p.(Arg83Cys) Unknown - VUS g.41055964C>T - G6PC(NM_000151.2):c.247C>T (p.R83C), G6PC(NM_001270397.1):c.247C>T (p.R83C) - G6PC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.340+10C>A r.(=) p.(=) Unknown - benign g.41056067C>A g.42904050C>A G6PC(NM_000151.2):c.340+10C>A, G6PC(NM_001270397.1):c.340+10C>A - G6PC_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.340+10C>A r.(=) p.(=) Unknown - likely benign g.41056067C>A g.42904050C>A G6PC(NM_000151.2):c.340+10C>A, G6PC(NM_001270397.1):c.340+10C>A - G6PC_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.379_380dup r.(?) p.(Tyr128Thrfs*3) Unknown - VUS g.41059578_41059579dup g.42907561_42907562dup - - G6PC_000004 - - - rs80356488 Unknown - - - 0 - DNA SEQ - - Healthy/Control - - - - - - - - 0 - - 1 LOVD
+/? 3 c.379_380dup r.(?) p.(Tyr128Thrfs*3) Maternal (confirmed) - pathogenic g.41059578_41059579dup g.42907561_42907562dup 459insAT - G6PC_000004 - PubMed: Lei 1993, OMIM:var0001 - - Unknown - - - 0 - DNA SEQ - - GSD1A - - - - - United States - - 0 - - 1 LOVD
+/? 3 c.379_380dup r.(?) p.(Tyr128Thrfs*3) Maternal (confirmed) - pathogenic g.41059578_41059579dup g.42907561_42907562dup 459insAT - G6PC_000004 - PubMed: Lei 1993, OMIM:var0002 - - Unknown - - - 0 - DNA SEQ - - GSD1A - - - - - United States - - 0 - - 1 LOVD
+/. - c.379_380dup r.(?) p.(Tyr128Thrfs*3) Parent #1 - pathogenic (recessive) g.41059578_41059579dup g.42907561_42907562dup 379_380dupTA - G6PC_000004 - PubMed: Wang 2013 - - Germline - - - 0 - DNA SEQ - - GSD P2 PubMed: Wang 2013 - M - United States - - 0 - - 1 LOVD
+/. - c.379_380dup r.(?) p.(Tyr128Thrfs*3) Both (homozygous) - pathogenic (recessive) g.41059578_41059579dup g.42907561_42907562dup 379_380dupTA - G6PC_000004 - PubMed: Wang 2013 - - Germline - - - 0 - DNA SEQ - - GSD P22 PubMed: Wang 2013 - M - United States - - 0 - - 1 LOVD
-/. - c.432G>A r.(?) p.(Pro144=) Unknown - benign g.41059631G>A g.42907614G>A G6PC(NM_001270397.2):c.355G>A (p.D119N) - G6PC_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.508C>T r.(?) p.(Arg170Ter) Unknown - pathogenic g.41061381C>T g.42909364C>T G6PC(NM_000151.2):c.508C>T (p.R170*) - G6PC_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.508C>T r.(?) p.(Arg170Ter) Unknown - pathogenic g.41061381C>T - G6PC(NM_000151.2):c.508C>T (p.R170*) - G6PC_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.533C>T r.(?) p.(Pro178Leu) Parent #2 - pathogenic (recessive) g.41061406C>T g.42909389C>T - - G6PC_000039 - PubMed: Wang 2013 - - Germline - - - 0 - DNA SEQ - - GSD P2 PubMed: Wang 2013 - M - United States - - 0 - - 1 LOVD
+/. - c.562G>C r.(?) p.(Gly188Arg) Unknown - pathogenic g.41061435G>C g.42909418G>C G6PC(NM_001270397.1):c.485G>C (p.R162T) - G6PC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.562G>C r.(?) p.(Gly188Arg) Unknown - pathogenic g.41061435G>C g.42909418G>C G6PC(NM_001270397.1):c.485G>C (p.R162T) - G6PC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.595C>T r.(?) p.(His199Tyr) Unknown - VUS g.41062964C>T g.42910947C>T G6PC(NM_001270397.1):c.518C>T (p.P173L) - G6PC_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.788del r.(?) p.(Lys263ArgfsTer38) Unknown - likely pathogenic g.41063157del g.42911140del G6PC(NM_000151.2):c.788delA (p.K263Rfs*38) - G6PC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 5 c.883C>T r.(?) p.(Arg295Cys) Unknown - VUS g.41063252C>T g.42911235C>T - - G6PC_000003 - - - rs104894563 Unknown - - - 0 - DNA SEQ - - Healthy/Control - - - - - - - - 0 - - 1 LOVD
+/? 5 c.883C>T r.(?) p.(Arg295Cys) Paternal (confirmed) - pathogenic g.41063252C>T g.42911235C>T 962C>T - G6PC_000003 - PubMed: Lei 1993, OMIM:var0003 - - Unknown - - - 0 - DNA SEQ - - GSD1A - - liver biopsy G6Pase activity undetectable - - United States - - 0 - - 1 LOVD
+?/. - c.884G>A r.(?) p.(Arg295His) Unknown - likely pathogenic g.41063253G>A g.42911236G>A - - G6PC_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.909C>T r.(?) p.(Leu303=) Unknown - likely benign g.41063278C>T - G6PC(NM_000151.2):c.909C>T (p.L303=) - G6PC_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.910G>A r.(?) p.(Val304Ile) Unknown - likely benign g.41063279G>A g.42911262G>A G6PC(NM_000151.2):c.910G>A (p.V304I) - G6PC_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.910G>A r.(?) p.(Val304Ile) Unknown - likely benign g.41063279G>A - G6PC(NM_000151.2):c.910G>A (p.V304I) - G6PC_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.948C>A r.(?) p.(Ser316=) Unknown - likely benign g.41063317C>A - G6PC(NM_000151.2):c.948C>A (p.S316=) - G6PC_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.954C>T r.(?) p.(Val318=) Unknown - likely benign g.41063323C>T g.42911306C>T G6PC(NM_000151.2):c.954C>T (p.V318=) - G6PC_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.980_982del r.(?) p.(Phe327del) Unknown - pathogenic g.41063349_41063351del - G6PC1(NM_000151.2):c.980_982delTCT (p.F327del) - G6PC_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1002C>T r.(?) p.(Pro334=) Unknown - likely benign g.41063371C>T - G6PC(NM_000151.2):c.1002C>T (p.P334=) - G6PC_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1012G>T r.(?) p.(Val338Phe) Unknown - likely pathogenic g.41063381G>T g.42911364G>T G6PC1(NM_000151.2):c.1012G>T (p.V338F) - G6PC_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1022T>A r.(?) p.(Ile341Asn) Parent #1 - pathogenic g.41063391T>A g.42911374T>A - - G6PC_000033 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs387906505 Germline - 1/2791 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/? 5 c.1039C>T r.(?) p.(Gln347*) Unknown - pathogenic g.41063408C>T g.42911391C>T - - G6PC_000002 - - - - Unknown - - - 0 - DNA SEQ-NG-I, SEQ - - GSD1B - - - F - United Kingdom (Great Britain) - - 0 - - 1 Shu Yau
?/? 5 c.1039C>T r.(?) p.(Gln347*) Unknown - VUS g.41063408C>T g.42911391C>T - - G6PC_000002 - - - rs80356487 Unknown - - - 0 - DNA SEQ - - Healthy/Control - - - - - - - - 0 - - 1 LOVD
+/. - c.1039C>T r.(?) p.(Gln347*) Unknown - pathogenic g.41063408C>T - G6PC(NM_000151.2):c.1039C>T (p.Q347*) - G6PC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1047G>T r.(?) p.(Leu349=) Unknown - likely benign g.41063416G>T - G6PC(NM_000151.2):c.1047G>T (p.L349=) - G6PC_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1068G>A r.(?) p.(Ser356=) Unknown - likely benign g.41063437G>A - G6PC(NM_000151.2):c.1068G>A (p.S356=) - G6PC_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*745G>T r.(=) p.(=) Parent #1 - VUS g.41064188G>T g.42912171G>T - - G6PC_000034 15 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116897758 Germline - 15/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 15 Mohammed Faruq
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