Full data view for gene G6PC3

Information The variants shown are described using the NM_138387.3 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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.-154747_*99865dup r.? p.? Unknown - VUS g.41993587_42253276dup g.43916219_44175908dup - - ASB16_000001 array 41993587–42253276x3 - - - Unknown - - - - - DNA arrayCNV - - MFDGA;MFDM - PubMed: Lines 2012 - F no - - - - - - 1 Johan den Dunnen
+/. 1 c.130C>T r.(?) p.(Pro44Ser) Both (homozygous) ACMG pathogenic g.42148463C>T g.44071095C>T - - G6PC3_000017 - PubMed: Stray-Pedersen 2017 - - De novo - - - - - DNA SEQ-NG - - IMD Pat98,1 PubMed: Stray-Pedersen 2017 - F - Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.187A>G r.(?) p.(Ile63Val) Unknown - likely benign g.42148520A>G g.44071152A>G G6PC3(NM_138387.3):c.187A>G (p.I63V) - G6PC3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.210del r.(?) p.(Phe71SerfsTer46) Parent #1 ACMG pathogenic (recessive) g.42148543del g.44071175del c.210delC - G6PC3_000018 main disease-related variant PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat91,1 PubMed: Stray-Pedersen 2017 3-generation family, 2 affected cousins, unaffected heterozygous carrier relatives M - Mexico - - - - - 2 Johan den Dunnen
-?/. - c.264T>G r.(?) p.(Gly88=) Unknown - likely benign g.42151573T>G g.44074205T>G G6PC3(NM_138387.3):c.264T>G (p.G88=) - G6PC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.392C>T r.(?) p.(Ser131Leu) Unknown - VUS g.42152114C>T - G6PC3(NM_138387.3):c.392C>T (p.S131L) - G6PC3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.416+5A>G r.spl? p.? Unknown - benign g.42152143A>G g.44074775A>G G6PC3(NM_001319945.1):c.416+5A>G (p.?), G6PC3(NM_138387.3):c.416+5A>G - G6PC3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.416+5A>G r.spl? p.? Unknown - likely benign g.42152143A>G - G6PC3(NM_001319945.1):c.416+5A>G (p.?), G6PC3(NM_138387.3):c.416+5A>G - G6PC3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.417-10_417-9del r.(=) p.(=) Unknown - likely benign g.42152327_42152328del g.44074959_44074960del G6PC3(NM_138387.3):c.417-10_417-9delTT - G6PC3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.482G>A r.(?) p.(Arg161Gln) Both (homozygous) ACMG pathogenic (recessive) g.42152402G>A g.44075034G>A - - G6PC3_000019 main disease-related variant PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat91,4 PubMed: Stray-Pedersen 2017 cousin M - Mexico - - - - - 1 Johan den Dunnen
+/. 4 c.482G>A r.(?) p.(Arg161Gln) Parent #2 ACMG pathogenic (recessive) g.42152402G>A g.44075034G>A - - G6PC3_000019 main disease-related variant PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat91,1 PubMed: Stray-Pedersen 2017 3-generation family, 2 affected cousins, unaffected heterozygous carrier relatives M - Mexico - - - - - 2 Johan den Dunnen
-?/. - c.536-10A>T r.(=) p.(=) Unknown - likely benign g.42152668A>T g.44075300A>T G6PC3(NM_138387.3):c.536-10A>T - G6PC3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.537C>T r.(?) p.(=) Unknown - likely benign g.42152679C>T - G6PC3(NM_138387.4):c.537C>T (p.G179=) - G6PC3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.566G>A r.(?) p.(Arg189Gln) Unknown - likely benign g.42152708G>A g.44075340G>A G6PC3(NM_138387.3):c.566G>A (p.R189Q), G6PC3(NM_138387.4):c.566G>A (p.(Arg189Gln)) - G6PC3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.566G>A r.(?) p.(Arg189Gln) Unknown - likely benign g.42152708G>A - G6PC3(NM_138387.3):c.566G>A (p.R189Q), G6PC3(NM_138387.4):c.566G>A (p.(Arg189Gln)) - G6PC3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.566G>A r.(?) p.(Arg189Gln) Unknown - VUS g.42152708G>A - G6PC3(NM_138387.3):c.566G>A (p.R189Q), G6PC3(NM_138387.4):c.566G>A (p.(Arg189Gln)) - G6PC3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.647C>T r.(?) p.(Thr216Ile) Unknown - benign g.42152789C>T g.44075421C>T G6PC3(NM_138387.3):c.647C>T (p.(Thr216Ile), p.T216I) - G6PC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.647C>T r.(?) p.(Thr216Ile) Unknown - likely benign g.42152789C>T - G6PC3(NM_138387.3):c.647C>T (p.(Thr216Ile), p.T216I) - G6PC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.651C>T r.(?) p.(Leu217=) Unknown - likely benign g.42152793C>T - G6PC3(NM_001319945.1):c.532C>T (p.L178F) - G6PC3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.684del r.(?) p.(Ser229Alafs*2) Both (homozygous) - pathogenic g.42153054del g.44075686del 684delC - G6PC3_000006 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
?/. - c.778G>C r.(?) p.(Gly260Arg) Parent #1 - VUS g.42153148G>C g.44075780G>C - - G6PC3_000012 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200478425 Germline - 2/2781 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.806_808del r.(?) p.(Cys269del) Unknown - VUS g.42153176_42153178del g.44075808_44075810del G6PC3(NM_138387.3):c.806_808delGCT (p.C269del) - G6PC3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.815A>G r.(?) p.(Gln272Arg) Unknown - likely benign g.42153185A>G g.44075817A>G G6PC3(NM_138387.3):c.815A>G (p.(Gln272Arg), p.Q272R) - G6PC3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.815A>G r.(?) p.(Gln272Arg) Unknown - benign g.42153185A>G - G6PC3(NM_138387.3):c.815A>G (p.(Gln272Arg), p.Q272R) - G6PC3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1023G>A r.(?) p.(Pro341=) Unknown - likely benign g.42153393G>A - G6PC3(NM_138387.3):c.1023G>A (p.P341=) - G6PC3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2468T>G r.(=) p.(=) Unknown - likely benign g.42155879T>G g.44078511T>G HDAC5(NM_001015053.1):c.3321A>C (p.(Glu1107Asp)) - G6PC3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4793G>T r.(=) p.(=) Unknown - VUS g.42158204G>T g.44080836G>T HDAC5(NM_001015053.1):c.2657C>A (p.(Pro886His)) - HDAC5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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