Full data view for gene GCH1

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

37 entries on 1 page. Showing entries 1 - 37.
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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.66C>T r.(?) p.(Phe22=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68C>T r.(?) p.(Pro23Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.68C>T r.(?) p.(Pro23Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68C>T r.(?) p.(Pro23Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.119dup r.(?) p.(Arg41Alafs*24) Unknown - pathogenic g.55369267dup - - - GCH1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139G>A r.(?) p.(Ala47Thr) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.206C>T r.(?) p.(Pro69Leu) Unknown - likely benign 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.206C>T r.(?) p.(Pro69Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.206C>T r.(?) p.(Pro69Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.211C>T r.(?) p.(Leu71=) Unknown - likely benign g.55369171G>A - GCH1(NM_000161.2):c.211C>T (p.L71=) - GCH1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.212T>A r.(?) p.(Leu71Gln) Unknown - VUS g.55369170A>T - - - GCH1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.212T>G r.(?) p.(Leu71Arg) Unknown - VUS g.55369170A>C - - - GCH1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.225C>T r.(?) p.(Tyr75=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.250G>A r.(?) p.(Glu84Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.295del r.(?) p.(Ala99ProfsTer19) Unknown - pathogenic g.55369088del g.54902370del GCH1(NM_000161.2):c.295delG (p.A99Pfs*19) - GCH1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.328C>G r.(?) p.(Gln110Glu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.422G>C r.(?) p.(Cys141Ser) Unknown - pathogenic g.55332076C>G - GCH1(NM_000161.2):c.422G>C (p.C141S) - GCH1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.424G>T r.(?) p.(Glu142*) Unknown - pathogenic g.55332074C>A - GCH1(NM_000161.2):c.424G>T (p.E142*) - GCH1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.454-2A>G r.spl? p.? Unknown - pathogenic g.55326456T>C g.54859738T>C - - GCH1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.454-1G>A r.spl? p.? Unknown - pathogenic g.55326455C>T g.54859737C>T - - GCH1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.458A>G r.(?) p.(His153Arg) Unknown - VUS g.55326450T>C g.54859732T>C - - GCH1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.458A>T r.(?) p.(His153Leu) Unknown - VUS g.55326450T>A g.54859732T>A - - GCH1_000029 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-1429 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
-/. - c.509+15G>A r.(=) p.(=) Unknown - benign g.55326384C>T g.54859666C>T GCH1(NM_000161.2):c.509+15G>A - GCH1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.543T>G r.(?) p.(Val181=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.565A>T r.(?) p.(Ile189Phe) Unknown - VUS g.55312547T>A g.54845829T>A - - GCH1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.587C>A r.(?) p.(Ala196Asp) Unknown 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 - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
+/. - c.590_597del r.(?) p.(Leu197Cysfs*8) Unknown - pathogenic g.55312519_55312526del - GCH1(NM_000161.2):c.590_597delTGCGGCCT (p.L197Cfs*8) - GCH1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.610G>A r.(?) p.(Val204Ile) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.626+2dup r.(?) p.(?) Unknown ACMG VUS g.55312484dup g.54845766dup - - GCH1_000025 ACMG grading: PM2,PP3,PP5; Steinberger et al. 2000. Neurology 55: 1735 - - - Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - - - - 0 - - 1 Andreas Laner
+?/. 5i c.626+2dup r.spl p.? Unknown ACMG likely pathogenic (dominant) g.55312484dup g.54845766dup - - GCH1_000025 ACMG: PP1, PP3, PM2, PS4_MOD; class 4; second patient unrelated patient in-house with this variant, 2 more in literature, 1 confirmed co-segregation, PMID: 19332422 - - Germline ? - - 0 - DNA SEQ-NG-I - - DYT5 173171 - - F - Germany - - 0 - - 1 Andreas Laner
+/. - c.631_632del r.(?) p.(Met211ValfsTer38) Unknown - pathogenic g.55310856_55310857del g.54844138_54844139del GCH1(NM_000161.2):c.631_632delAT (p.M211Vfs*38) - GCH1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.631_632del r.(?) p.(Met211fs) Unknown - pathogenic g.55310856_55310857del g.54844138_54844139del 631_632delAT - GCH1_000008 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - - - - 0 - - 1 IMGAG
+/. - c.646C>T r.(?) p.(Arg216Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.671A>G r.(?) p.(Lys224Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.677_678del r.(?) p.(Val226AspfsTer23) Unknown - likely pathogenic g.55310812_55310813del g.54844094_54844095del - - GCH1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*20C>T r.(=) p.(=) Unknown - likely benign g.55310715G>A g.54843997G>A GCH1(NM_000161.2):c.*20C>T - GCH1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*243C>T r.(=) p.(=) Unknown - benign g.55310492G>A g.54843774G>A GCH1(NM_000161.2):c.*243C>T - GCH1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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