Full data view for gene PCK1

Information The variants shown are described using the NM_002591.3 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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.7C>T r.(?) p.(Pro3Ser) Unknown - likely benign g.56136474C>T g.57561418C>T PCK1(NM_002591.4):c.7C>T (p.P3S) - PCK1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.69A>G r.(?) p.(Leu23=) Unknown - benign g.56136536A>G g.57561480A>G PCK1(NM_002591.4):c.69A>G (p.L23=) - PCK1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.141C>T r.(?) p.(Asp47=) Unknown - likely benign g.56136608C>T - PCK1(NM_002591.3):c.141C>T (p.D47=) - PCK1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.179T>C r.(?) p.(Met60Thr) Unknown - benign g.56136646T>C g.57561590T>C PCK1(NM_002591.3):c.179T>C (p.M60T), PCK1(NM_002591.4):c.179T>C (p.M60T) - PCK1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.179T>C r.(?) p.(Met60Thr) Unknown - VUS g.56136646T>C - PCK1(NM_002591.3):c.179T>C (p.M60T), PCK1(NM_002591.4):c.179T>C (p.M60T) - PCK1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.413C>T r.(?) p.(Thr138Ile) Unknown - likely benign g.56137758C>T g.57562702C>T PCK1(NM_002591.3):c.413C>T (p.T138I), PCK1(NM_002591.4):c.413C>T (p.T138I) - PCK1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.413C>T r.(?) p.(Thr138Ile) Unknown - likely benign g.56137758C>T - PCK1(NM_002591.3):c.413C>T (p.T138I), PCK1(NM_002591.4):c.413C>T (p.T138I) - PCK1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.453G>A r.(?) p.(Ser151=) Unknown - benign g.56137798G>A g.57562742G>A PCK1(NM_002591.4):c.453G>A (p.S151=) - PCK1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.462A>G r.(?) p.(Ser154=) Unknown - benign g.56137807A>G g.57562751A>G PCK1(NM_002591.4):c.462A>G (p.S154=) - PCK1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.489A>G r.(?) p.(Ser163=) Unknown - benign g.56137834A>G g.57562778A>G PCK1(NM_002591.4):c.489A>G (p.S163=) - PCK1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.550G>C r.(?) p.(Val184Leu) Unknown - benign g.56137895G>C g.57562839G>C PCK1(NM_002591.4):c.550G>C (p.V184L) - PCK1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.641C>T r.(?) p.(Pro214Leu) Unknown - VUS g.56138114C>T - PCK1(NM_002591.3):c.641C>T (p.P214L) - PCK1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.716C>T r.(?) p.(Ser239Leu) Maternal (confirmed) ACMG likely pathogenic (recessive) g.56138189C>T g.57563133C>T - - PCK1_000027 - - - rs139902878 Germline yes - - 0 - DNA SEQ-NG-I - - ? Fam1PatII3/4 PubMed: Vieira 2017 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F yes Finland - - 0 - dietary precautions 2 Elisa Rahikkala
-?/. - c.898C>T r.(?) p.(Leu300Phe) Unknown - likely benign g.56138720C>T g.57563664C>T PCK1(NM_002591.4):c.898C>T (p.L300F) - PCK1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.925G>A r.(?) p.(Gly309Arg) Both (homozygous) ACMG likely pathogenic g.56138747G>A g.57563691G>A - - PCK1_000001 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - PCKDC - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - 1 Daniel Trujillano
+/. - c.925G>A r.(?) p.(Gly309Arg) Both (homozygous) ACMG pathogenic (recessive) g.56138747G>A g.57563691G>A - - PCK1_000001 - PubMed: Vieira 2017 - rs201186470 Germline yes - - 0 - DNA SEQ-NG-I - - ? Fam1PatII3/4 PubMed: Vieira 2017 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F yes Finland - - 0 - dietary precautions 2 Elisa Rahikkala
+/. - c.925G>A r.(?) p.(Gly309Arg) Both (homozygous) ACMG pathogenic (recessive) g.56138747G>A g.57563691G>A - - PCK1_000001 - PubMed: Vieira 2017 - rs201186470 Germline - - - 0 - DNA SEQ-NG-I - WES ? Fam2PatII2 PubMed: Vieira 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Finland - - 0 - - 1 Elisa Rahikkala
+/. - c.962-1G>C r.spl? p.? Unknown - pathogenic g.56139224G>C g.57564168G>C PCK1(NM_002591.4):c.962-1G>C - PCK1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1005C>T r.(?) p.(Val335=) Unknown - likely benign g.56139268C>T - PCK1(NM_002591.3):c.1005C>T (p.V335=) - PCK1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1084G>C r.(?) p.(Glu362Gln) Unknown - likely benign g.56139347G>C g.57564291G>C PCK1(NM_002591.3):c.1084G>C (p.E362Q) - PCK1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1102G>A r.(?) p.(Val368Ile) Unknown - benign g.56139365G>A g.57564309G>A PCK1(NM_002591.4):c.1102G>A (p.V368I) - PCK1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1102G>A r.(?) p.(Val368Ile) Parent #1 - likely benign g.56139365G>A g.57564309G>A - - PCK1_000012 73 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1804160 Germline - 73/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 73 Mohammed Faruq
-?/. - c.1102G>A r.(?) p.(Val368Ile) Both (homozygous) - likely benign g.56139365G>A g.57564309G>A - - PCK1_000012 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1804160 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.1140T>C r.(?) p.(Gly380=) Unknown - benign g.56139403T>C g.57564347T>C PCK1(NM_002591.4):c.1140T>C (p.G380=) - PCK1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1140T>C r.(?) p.(Gly380=) Unknown - benign g.56139403T>C g.57564347T>C PCK1(NM_002591.4):c.1140T>C (p.G380=) - PCK1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1186+1G>T r.spl p.? Unknown - likely pathogenic g.56139450G>T g.57564394G>T - - PCK1_000021 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - (Germany) - - 0 - - 1 IMGAG
-/. - c.1319-12_1319-11dup r.(=) p.(=) Unknown - benign g.56140084_56140085dup g.57565028_57565029dup PCK1(NM_002591.4):c.1319-10_1319-9insTT - PCK1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1319-11T>C r.(=) p.(=) Unknown - benign g.56140085T>C g.57565029T>C PCK1(NM_002591.4):c.1319-11T>C - PCK1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1319-6C>A r.(=) p.(=) Unknown - benign g.56140090C>A g.57565034C>A PCK1(NM_002591.4):c.1319-6C>A - PCK1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1375G>A r.(?) p.(Ala459Thr) Unknown - VUS g.56140152G>A g.57565096G>A PCK1(NM_002591.4):c.1375G>A (p.A459T) - PCK1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1448G>A r.(?) p.(Arg483Gln) Unknown - likely benign g.56140439G>A g.57565383G>A PCK1(NM_002591.3):c.1448G>A (p.R483Q), PCK1(NM_002591.4):c.1448G>A (p.R483Q) - PCK1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1448G>A r.(?) p.(Arg483Gln) Unknown - VUS g.56140439G>A - PCK1(NM_002591.3):c.1448G>A (p.R483Q), PCK1(NM_002591.4):c.1448G>A (p.R483Q) - PCK1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1642G>A r.(?) p.(Ala548Thr) Unknown - likely benign g.56140633G>A g.57565577G>A PCK1(NM_002591.3):c.1642G>A (p.A548T), PCK1(NM_002591.4):c.1642G>A (p.A548T) - PCK1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1642G>A r.(?) p.(Ala548Thr) Unknown - likely benign g.56140633G>A - PCK1(NM_002591.3):c.1642G>A (p.A548T), PCK1(NM_002591.4):c.1642G>A (p.A548T) - PCK1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1735A>C r.(?) p.(Ser579Arg) Unknown - benign g.56140726A>C g.57565670A>C PCK1(NM_002591.4):c.1735A>C (p.S579R) - PCK1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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