Unique variants in the GCH1 gene

Information The variants shown are described using the NM_000161.2 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.66C>T r.(?) p.(Phe22=) - likely benign g.55369316G>A g.54902598G>A GCH1(NM_000161.2):c.66C>T (p.F22=) - GCH1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 3 - c.68C>T r.(?) p.(Pro23Leu) - likely benign g.55369314G>A g.54902596G>A GCH1(NM_000161.2):c.68C>T (p.P23L, p.(Pro23Leu)) - GCH1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_AMC
+/. 1 - c.119dup r.(?) p.(Arg41Alafs*24) - pathogenic g.55369267dup - - - GCH1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.139G>A r.(?) p.(Ala47Thr) - VUS g.55369243C>T g.54902525C>T GCH1(NM_000161.2):c.139G>A (p.(Ala47Thr)) - GCH1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 3 - c.206C>T r.(?) p.(Pro69Leu) - likely benign, VUS g.55369176G>A g.54902458G>A GCH1(NM_000161.2):c.206C>T (p.P69L), GCH1(NM_001024024.1):c.206C>T (p.P69L) - GCH1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.211C>T r.(?) p.(Leu71=) - likely benign g.55369171G>A - GCH1(NM_000161.2):c.211C>T (p.L71=) - GCH1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.212T>A r.(?) p.(Leu71Gln) - VUS g.55369170A>T - - - GCH1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.212T>G r.(?) p.(Leu71Arg) - VUS g.55369170A>C - - - GCH1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.225C>T r.(?) p.(Tyr75=) - likely benign g.55369157G>A g.54902439G>A GCH1(NM_000161.2):c.225C>T (p.Y75=) - GCH1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.250G>A r.(?) p.(Glu84Lys) - likely pathogenic g.55369132C>T g.54902414C>T GCH1(NM_000161.2):c.250G>A (p.E84K) - GCH1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.295del r.(?) p.(Ala99ProfsTer19) - pathogenic g.55369088del g.54902370del GCH1(NM_000161.2):c.295delG (p.A99Pfs*19) - GCH1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.328C>G r.(?) p.(Gln110Glu) - VUS g.55369054G>C g.54902336G>C GCH1(NM_000161.2):c.328C>G (p.(Gln110Glu)) - GCH1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.422G>C r.(?) p.(Cys141Ser) - pathogenic g.55332076C>G - GCH1(NM_000161.2):c.422G>C (p.C141S) - GCH1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.424G>T r.(?) p.(Glu142*) - pathogenic g.55332074C>A - GCH1(NM_000161.2):c.424G>T (p.E142*) - GCH1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.454-2A>G r.spl? p.? - pathogenic g.55326456T>C g.54859738T>C - - GCH1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.454-1G>A r.spl? p.? - pathogenic g.55326455C>T g.54859737C>T - - GCH1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.458A>G r.(?) p.(His153Arg) - VUS g.55326450T>C g.54859732T>C - - GCH1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 3 c.458A>T r.(?) p.(His153Leu) - VUS g.55326450T>A g.54859732T>A - - GCH1_000029 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.509+15G>A r.(=) p.(=) - benign g.55326384C>T g.54859666C>T GCH1(NM_000161.2):c.509+15G>A - GCH1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.543T>G r.(?) p.(Val181=) - likely benign g.55312569A>C g.54845851A>C GCH1(NM_000161.2):c.543T>G (p.(=)) - GCH1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.565A>T r.(?) p.(Ile189Phe) - VUS g.55312547T>A g.54845829T>A - - GCH1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.587C>A r.(?) p.(Ala196Asp) ACMG VUS g.55312525G>T g.54845807G>T - - GCH1_000024 ACMG grading: PM2,PP3,PP5; Zirn et al. 2008. J Neurol Neurosurg Psychiatry 79: 183 - - - Germline - - - - - Andreas Laner
+/. 1 - c.590_597del r.(?) p.(Leu197Cysfs*8) - pathogenic g.55312519_55312526del - GCH1(NM_000161.2):c.590_597delTGCGGCCT (p.L197Cfs*8) - GCH1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.610G>A r.(?) p.(Val204Ile) - VUS g.55312502C>T g.54845784C>T GCH1(NM_000161.2):c.610G>A (p.V204I) - GCH1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., ?/. 2 5i c.626+2dup r.(?), r.spl p.(?), p.? ACMG likely pathogenic (dominant), VUS g.55312484dup g.54845766dup - - GCH1_000025 ACMG grading: PM2,PP3,PP5; Steinberger et al. 2000. Neurology 55: 1735, 1 more item PMID: 19332422 - - Germline ? - - - - Andreas Laner
+/. 2 - c.631_632del r.(?) p.(Met211fs), p.(Met211ValfsTer38) - pathogenic g.55310856_55310857del g.54844138_54844139del 631_632delAT, GCH1(NM_000161.2):c.631_632delAT (p.M211Vfs*38) - GCH1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - IMGAG, VKGL-NL_Groningen
+/. 1 - c.646C>T r.(?) p.(Arg216Ter) - pathogenic g.55310842G>A g.54844124G>A GCH1(NM_000161.2):c.646C>T (p.R216*) - GCH1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.671A>G r.(?) p.(Lys224Arg) - VUS g.55310817T>C g.54844099T>C GCH1(NM_000161.2):c.671A>G (p.K224R) - GCH1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.677_678del r.(?) p.(Val226AspfsTer23) - likely pathogenic g.55310812_55310813del g.54844094_54844095del - - GCH1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*20C>T r.(=) p.(=) - likely benign g.55310715G>A g.54843997G>A GCH1(NM_000161.2):c.*20C>T - GCH1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.*243C>T r.(=) p.(=) - benign g.55310492G>A g.54843774G>A GCH1(NM_000161.2):c.*243C>T - GCH1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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