Unique variants in the PCK1 gene

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

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.7C>T r.(?) p.(Pro3Ser) - 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 - - - - - VKGL-NL_Utrecht
-/. 1 - c.69A>G r.(?) p.(Leu23=) - 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 - - - - - VKGL-NL_Groningen
-?/. 1 - c.141C>T r.(?) p.(Asp47=) - likely benign g.56136608C>T - PCK1(NM_002591.3):c.141C>T (p.D47=) - PCK1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 2 - c.179T>C r.(?) p.(Met60Thr) - benign, VUS 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 2 - c.413C>T r.(?) p.(Thr138Ile) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.453G>A r.(?) p.(Ser151=) - 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 - - - - - VKGL-NL_Groningen
-/. 1 - c.462A>G r.(?) p.(Ser154=) - 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 - - - - - VKGL-NL_Groningen
-/. 1 - c.489A>G r.(?) p.(Ser163=) - 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 - - - - - VKGL-NL_Groningen
-/. 1 - c.550G>C r.(?) p.(Val184Leu) - 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 - - - - - VKGL-NL_Groningen
?/. 1 - c.641C>T r.(?) p.(Pro214Leu) - VUS g.56138114C>T - PCK1(NM_002591.3):c.641C>T (p.P214L) - PCK1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.716C>T r.(?) p.(Ser239Leu) ACMG likely pathogenic (recessive) g.56138189C>T g.57563133C>T - - PCK1_000027 - - - rs139902878 Germline yes - - - - Elisa Rahikkala
-?/. 1 - c.898C>T r.(?) p.(Leu300Phe) - 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 - - - - - VKGL-NL_Utrecht
+/., +?/. 3 - c.925G>A r.(?) p.(Gly309Arg) ACMG likely pathogenic, pathogenic (recessive) g.56138747G>A g.57563691G>A - - PCK1_000001 - PubMed: Trujillano 2017, PubMed: Vieira 2017 - rs201186470 Germline yes - - - - Daniel Trujillano, Elisa Rahikkala
+/. 1 - c.962-1G>C r.spl? p.? - pathogenic g.56139224G>C g.57564168G>C PCK1(NM_002591.4):c.962-1G>C - PCK1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1005C>T r.(?) p.(Val335=) - likely benign g.56139268C>T - PCK1(NM_002591.3):c.1005C>T (p.V335=) - PCK1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1084G>C r.(?) p.(Glu362Gln) - 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 - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.1102G>A r.(?) p.(Val368Ile) - benign, likely benign g.56139365G>A g.57564309G>A PCK1(NM_002591.4):c.1102G>A (p.V368I) - PCK1_000012 1 homozygous; Clinindb (India), 73 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs1804160 CLASSIFICATION record, Germline - 1/2795 individuals, 73/2795 individuals - - - VKGL-NL_Utrecht, Mohammed Faruq
-/. 2 - c.1140T>C r.(?) p.(Gly380=) - 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 - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
+?/. 1 - c.1186+1G>T r.spl p.? - likely pathogenic g.56139450G>T g.57564394G>T - - PCK1_000021 - - - - Unknown - - - - - IMGAG
-/. 1 - c.1319-12_1319-11dup r.(=) p.(=) - 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 - - - - - VKGL-NL_Groningen
-/. 1 - c.1319-11T>C r.(=) p.(=) - benign g.56140085T>C g.57565029T>C PCK1(NM_002591.4):c.1319-11T>C - PCK1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1319-6C>A r.(=) p.(=) - benign g.56140090C>A g.57565034C>A PCK1(NM_002591.4):c.1319-6C>A - PCK1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1375G>A r.(?) p.(Ala459Thr) - 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 - - - - - VKGL-NL_Groningen
-?/., ?/. 2 - c.1448G>A r.(?) p.(Arg483Gln) - likely benign, VUS 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 2 - c.1642G>A r.(?) p.(Ala548Thr) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.1735A>C r.(?) p.(Ser579Arg) - 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 - - - - - VKGL-NL_Utrecht
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