Full data view for gene TRAPPC4

Information The variants shown are described using the NM_016146.4 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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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     
+?/. 1 c.23_24del r.(?) p.(Val8Glyfs*19) Maternal (confirmed) ACMG likely pathogenic (recessive) g.118889528_118889529del g.119018818_119018819del - - TRAPPC4_000008 - - ClinVar-3378415 rs781880480 Germline yes - - - - DNA SEQ-NG-I peripheral blood WES ID - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
?/. - c.212T>G r.(?) p.(Val71Gly) Unknown - VUS g.118889889T>G - TRAPPC4(NM_016146.6):c.212T>G (p.(Val71Gly)) - CCDC84_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.278C>T r.(?) p.(Pro93Leu) Both (homozygous) ACMG VUS g.118889955C>T g.119019245C>T - - TRAPPC4_000002 - - - - Germline yes - - - - DNA SEQ-NG-I - - ? - - - M yes India - - - - Sodium valproate 2 Anju Shukla
+?/. 2 c.278C>T r.(?) p.(Pro93Leu) Both (homozygous) ACMG likely pathogenic g.118889955C>T - - - TRAPPC4_000002 - - - - Germline yes - - - - DNA SEQ-NG-I - - ? - - - M yes India - - - - Sodium valproate 2 Anju Shukla
+/. - c.454+3A>G r.spl? p.? Unknown ACMG pathogenic g.118890966A>G - - - TRAPPC4_000001 - - - - Germline yes - - - - DNA SEQ-NG - - ? - - - - - Egypt - - - - - 1 Marcello Scala
+/. 3i c.454+3A>G r.351_454del p.Leu120Aspfs*9 Both (homozygous) - pathogenic (recessive) g.118890966A>G g.119020256A>G - - TRAPPC4_000001 - PubMed: Van Bergen 2020 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - ? Fam1PatII1 PubMed: Van Bergen 2020 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F no - white - - - Epilim, gabapentin and clobazam 2 Johan den Dunnen
+/. 3i c.454+3A>G r.spl p.(Leu120Aspfs*9) Both (homozygous) - pathogenic (recessive) g.118890966A>G g.119020256A>G - - TRAPPC4_000001 - PubMed: Van Bergen 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? Fam1PatII3 PubMed: Van Bergen 2020 brother M no - white - - - - 1 Johan den Dunnen
+/. 3i c.454+3A>G r.spl p.(Leu120Aspfs*9) Both (homozygous) - pathogenic (recessive) g.118890966A>G g.119020256A>G - - TRAPPC4_000001 - PubMed: Van Bergen 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? Fam2PatII4 PubMed: Van Bergen 2020 2-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous carrier parents M yes Turkey - 7y - - - 3 Johan den Dunnen
+/. 3i c.454+3A>G r.spl p.(Leu120Aspfs*9) Both (homozygous) - pathogenic (recessive) g.118890966A>G g.119020256A>G - - TRAPPC4_000001 - PubMed: Van Bergen 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? Fam2PatII5 PubMed: Van Bergen 2020 sister F yes Turkey - 2y6m - - - 1 Johan den Dunnen
+/. 3i c.454+3A>G r.spl p.(Leu120Aspfs*9) Both (homozygous) - pathogenic (recessive) g.118890966A>G g.119020256A>G - - TRAPPC4_000001 - PubMed: Van Bergen 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? Fam2PatII6 PubMed: Van Bergen 2020 sister F yes Turkey - - - - Baclofen, levetiracetam 1 Johan den Dunnen
+/. 3i c.454+3A>G r.spl p.(Leu120Aspfs*9) Both (homozygous) - pathogenic (recessive) g.118890966A>G g.119020256A>G - - TRAPPC4_000001 - PubMed: Van Bergen 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? Fam3PatII1 PubMed: Van Bergen 2020 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Canada French-Canadian 3y - - - 2 Johan den Dunnen
+/. 3i c.454+3A>G r.spl p.(Leu120Aspfs*9) Both (homozygous) - pathogenic (recessive) g.118890966A>G g.119020256A>G - - TRAPPC4_000001 - PubMed: Van Bergen 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? Fam3PatII2 PubMed: Van Bergen 2020 sister F no Canada French-Canadian - - - Keppra 1 Johan den Dunnen
+/. - c.454+3A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.118890966A>G - - - TRAPPC4_000001 - PubMed: Kaur 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamPatIII2 PubMed: Kaur 2020 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - India - - - - - 1 Johan den Dunnen
+?/. - c.454+3A>G r.spl? p.? Paternal (confirmed) ACMG likely pathogenic (recessive) g.118890966A>G g.119020256A>G - - TRAPPC4_000001 - - - rs375776811 Germline yes - - - - DNA SEQ-NG-I peripheral blood WES ID - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
-?/. - c.582-8C>T r.(=) p.(=) Unknown - likely benign g.118894023C>T - TRAPPC4(NM_001318492.1):c.267-8C>T - CCDC84_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1515T>G r.(=) p.(=) Unknown - VUS g.118895624T>G - SLC37A4(NM_001164277.1):c.1286A>C (p.E429A) - TRAPPC4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1523C>T r.(=) p.(=) Unknown - benign g.118895632C>T - SLC37A4(NM_001164277.1):c.1278G>A (p.(Lys426=)) - SLC37A4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1526G>A r.(=) p.(=) Unknown - benign g.118895635G>A - SLC37A4(NM_001164277.1):c.1275C>T (p.S425=) - SLC37A4_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1561G>A r.(=) p.(=) Unknown - likely benign g.118895670G>A g.119024960G>A SLC37A4(NM_001164278.2):c.1307C>T (p.P436L) - SLC37A4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1561G>A r.(=) p.(=) Unknown - likely benign g.118895670G>A g.119024960G>A SLC37A4(NM_001164278.2):c.1307C>T (p.P436L) - SLC37A4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1578G>A r.(=) p.(=) Unknown - VUS g.118895687G>A - SLC37A4(NM_001164277.1):c.1223C>T (p.T408M) - TRAPPC4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1642T>C r.(=) p.(=) Unknown - VUS g.118895751T>C - SLC37A4(NM_001164277.1):c.1159A>G (p.(Ile387Val)) - TRAPPC4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*1816C>T r.(=) p.(=) Unknown - likely pathogenic g.118895925C>T - SLC37A4(NM_001164277.2):c.1099G>A (p.(Ala367Thr)) - SLC37A4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1848C>G r.(=) p.(=) Unknown - VUS g.118895957C>G g.119025247C>G SLC37A4(NM_001164277.1):c.1067G>C (p.S356T) - SLC37A4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1848C>G r.(=) p.(=) Unknown - likely benign g.118895957C>G - SLC37A4(NM_001164277.1):c.1067G>C (p.S356T) - SLC37A4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1853G>A r.(=) p.(=) Unknown - likely benign g.118895962G>A g.119025252G>A SLC37A4(NM_001164277.1):c.1062C>T (p.(Asn354=), p.N354=) - SLC37A4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1853G>A r.(=) p.(=) Unknown - benign g.118895962G>A g.119025252G>A SLC37A4(NM_001164277.1):c.1062C>T (p.(Asn354=), p.N354=) - SLC37A4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1853G>A r.(=) p.(=) Unknown - benign g.118895962G>A - SLC37A4(NM_001164277.1):c.1062C>T (p.(Asn354=), p.N354=) - SLC37A4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*1872_*1873del r.(=) p.(=) Unknown - pathogenic g.118895981_118895982del - SLC37A4(NM_001164277.1):c.1042_1043delCT (p.(Leu348fs)), SLC37A4(NM_001164277.1):c.1042_1043delCT (p.L348Vfs*53) - SLC37A4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*1872_*1873del r.(=) p.(=) Unknown - likely pathogenic g.118895981_118895982del - SLC37A4(NM_001164277.1):c.1042_1043delCT (p.(Leu348fs)), SLC37A4(NM_001164277.1):c.1042_1043delCT (p.L348Vfs*53) - SLC37A4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*1900C>A r.(=) p.(=) Unknown - likely pathogenic g.118896009C>A - SLC37A4(NM_001164278.1):c.1081G>T (p.(Gly361Cys)) - SLC37A4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1903A>G r.(=) p.(=) Unknown - VUS g.118896012A>G - SLC37A4(NM_001164277.1):c.1012T>C (p.F338L) - TRAPPC4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1978G>A r.(=) p.(=) Unknown - benign g.118896087G>A g.119025377G>A SLC37A4(NM_001164277.1):c.985-48C>T - SLC37A4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2298G>A r.(=) p.(=) Unknown - VUS g.118896407G>A g.119025697G>A - - SLC37A4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2321G>A r.(=) p.(=) Unknown - benign g.118896430G>A - - - TRAPPC4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2340G>C r.(=) p.(=) Unknown - VUS g.118896449G>C g.119025739G>C SLC37A4(NM_001164278.2):c.1004C>G (p.P335R) - SLC37A4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3217C>T r.(=) p.(=) Unknown - VUS g.118897326C>T g.119026616C>T SLC37A4(NM_001164277.1):c.857G>A (p.R286Q) - SLC37A4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3217C>T r.(=) p.(=) Unknown - VUS g.118897326C>T - SLC37A4(NM_001164277.1):c.857G>A (p.R286Q) - SLC37A4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3535T>C r.(=) p.(=) Unknown - VUS g.118897644T>C - SLC37A4(NM_001164277.1):c.784+3A>G - TRAPPC4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3610C>G r.(=) p.(=) Unknown - VUS g.118897719C>G - - - TRAPPC4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4215G>A r.(=) p.(=) Unknown - benign g.118898324G>A g.119027614G>A SLC37A4(NM_001164278.2):c.626+14C>T - SLC37A4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4261T>A r.(=) p.(=) Unknown - likely benign g.118898370T>A g.119027660T>A SLC37A4(NM_001164277.1):c.593A>T (p.N198I, p.(Asn198Ile)) - SLC37A4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4261T>A r.(=) p.(=) Unknown - likely benign g.118898370T>A g.119027660T>A SLC37A4(NM_001164277.1):c.593A>T (p.N198I, p.(Asn198Ile)) - SLC37A4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4261T>A r.(=) p.(=) Unknown - likely benign g.118898370T>A g.119027660T>A SLC37A4(NM_001164277.1):c.593A>T (p.N198I, p.(Asn198Ile)) - SLC37A4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4261T>A r.(=) p.(=) Unknown - likely benign g.118898370T>A - SLC37A4(NM_001164277.1):c.593A>T (p.N198I, p.(Asn198Ile)) - SLC37A4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4261T>A r.(=) p.(=) Unknown - likely benign g.118898370T>A - SLC37A4(NM_001164277.1):c.593A>T (p.N198I, p.(Asn198Ile)) - SLC37A4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4298G>A r.(=) p.(=) Unknown - likely benign g.118898407G>A g.119027697G>A SLC37A4(NM_001164277.1):c.556C>T (p.L186F), SLC37A4(NM_001164277.2):c.556C>T (p.(Leu186Phe)) - SLC37A4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4298G>A r.(=) p.(=) Unknown - VUS g.118898407G>A - SLC37A4(NM_001164277.1):c.556C>T (p.L186F), SLC37A4(NM_001164277.2):c.556C>T (p.(Leu186Phe)) - SLC37A4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4328del r.(?) p.(=) Unknown - benign g.118898437del g.119027727del SLC37A4(NM_001164277.1):c.527delG (p.C176Lfs*36), SLC37A4(NM_001164278.2):c.528delG (p.C176Wfs*36) - SLC37A4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4328del r.(?) p.(=) Unknown - likely benign g.118898437del - SLC37A4(NM_001164277.1):c.527delG (p.C176Lfs*36), SLC37A4(NM_001164278.2):c.528delG (p.C176Wfs*36) - SLC37A4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4363G>A r.(=) p.(=) Unknown - likely benign g.118898472G>A g.119027762G>A SLC37A4(NM_001164277.1):c.492C>T (p.S164=) - SLC37A4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4388G>A r.(=) p.(=) Unknown - VUS g.118898497G>A g.119027787G>A SLC37A4(NM_001164277.1):c.467C>T (p.A156V) - SLC37A4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4388G>A r.(=) p.(=) Unknown - likely benign g.118898497G>A - SLC37A4(NM_001164277.1):c.467C>T (p.A156V) - SLC37A4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4388G>A r.(=) p.(=) Unknown - likely benign g.118898497G>A - SLC37A4(NM_001164277.1):c.467C>T (p.A156V) - SLC37A4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4866C>T r.(=) p.(=) Unknown - VUS g.118898975C>T - SLC37A4(NM_001164277.2):c.310G>A (p.(Ala104Thr)) - TRAPPC4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4934G>A r.(=) p.(=) Unknown - VUS g.118899043G>A g.119028333G>A SLC37A4(NM_001164277.1):c.242C>T (p.S81F) - SLC37A4_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4993A>G r.(=) p.(=) Unknown - likely benign g.118899102A>G - SLC37A4(NM_001164277.1):c.183T>C (p.(=)) - SLC37A4_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5026C>A r.(=) p.(=) Unknown - likely benign g.118899135C>A g.119028425C>A SLC37A4(NM_001164277.1):c.150G>T (p.G50=) - SLC37A4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5041T>C r.(=) p.(=) Unknown - benign g.118899150T>C g.119028440T>C SLC37A4(NM_001164278.2):c.149-14A>G - SLC37A4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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