Full data view for gene TRAPPC2L

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

25 entries on 1 page. Showing entries 1 - 25.
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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.-384G>A r.(?) p.(=) Unknown - likely benign g.88923175G>A g.88856767G>A GALNS(NM_000512.4):c.111C>T (p.L37=) - GALNS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-320A>C r.(?) p.(=) Unknown - VUS g.88923239A>C - GALNS(NM_000512.4):c.47T>G (p.V16G) - GALNS_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5C>G r.(?) p.(Ala2Gly) Both (homozygous) - pathogenic (recessive) g.88923563C>G g.88857155C>G - - TRAPPC2L_000002 - PubMed: Al-Deri 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamPatII2 PubMed: Al-Deri 2021 2-generation family, 3 affected sibs, unaffected heterozygous carrier parents/relatives F no United States Jewish-Ashkenazi - - - - 3 Johan den Dunnen
+/. - c.5C>G r.(?) p.(Ala2Gly) Both (homozygous) - pathogenic (recessive) g.88923563C>G g.88857155C>G - - TRAPPC2L_000002 - PubMed: Al-Deri 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamPatII3 PubMed: Al-Deri 2021 sister F no United States Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.5C>G r.(?) p.(Ala2Gly) Both (homozygous) - pathogenic (recessive) g.88923563C>G g.88857155C>G - - TRAPPC2L_000002 - PubMed: Al-Deri 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamPatII4 PubMed: Al-Deri 2021 brother M no United States Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.33+1G>A r.spl? p.? Unknown - pathogenic g.88923592G>A g.88857184G>A TRAPPC2L(NM_016209.5):c.33+1G>A - GALNS_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.33+2T>G r.spl? p.? Unknown - likely pathogenic g.88923593T>G - TRAPPC2L(NM_001318525.2):c.33+2T>G - GALNS_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.64A>G r.(?) p.(Thr22Ala) Unknown - likely benign g.88925057A>G g.88858649A>G TRAPPC2L(NM_016209.3):c.64A>G (p.(Thr22Ala)) - GALNS_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.109G>T r.(?) p.(Asp37Tyr) Both (homozygous) - likely pathogenic (recessive) g.88925102G>T g.88858694G>T - - TRAPPC2L_000001 - PubMed: Milev 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Pat1 PubMed: Milev 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents, second-degree cousins F yes Italy - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Asp37Tyr) Both (homozygous) - pathogenic (recessive) g.88925102G>T g.88858694G>T - - TRAPPC2L_000001 unrelated parents, TRAPPC2L in 1.9 Mb region of homozygosity PubMed: Milev 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat2 PubMed: Milev 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Austria - - - - - 1 Johan den Dunnen
-?/. - c.145G>T r.(?) p.(Ala49Ser) Unknown - likely benign g.88925138G>T g.88858730G>T TRAPPC2L(NM_016209.3):c.145G>T (p.(Ala49Ser)) - GALNS_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.171C>T r.(?) p.(=) Unknown - likely benign g.88925164C>T - TRAPPC2L(NM_001318526.2):c.53C>T (p.(Thr18Ile)) - GALNS_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.176G>A r.(?) p.(Gly59Asp) Unknown - VUS g.88925169G>A - TRAPPC2L(NM_001318525.2):c.176G>A (p.(Gly59Asp)) - GALNS_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.203A>G r.(?) p.(Lys68Arg) Unknown - VUS g.88925196A>G - TRAPPC2L(NM_001318525.2):c.203A>G (p.(Lys68Arg)) - GALNS_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.207-61A>G r.(=) p.(=) Unknown - VUS g.88926010A>G - TRAPPC2L(NM_001318527.2):c.53A>G (p.(His18Arg)) - GALNS_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207-45C>T r.(=) p.(=) Unknown - likely benign g.88926026C>T - TRAPPC2L(NM_001318524.1):c.207-45C>T (p.(=)) - GALNS_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.350A>G r.(?) p.(Asn117Ser) Unknown - likely benign g.88926356A>G g.88859948A>G TRAPPC2L(NM_016209.3):c.350A>G (p.(Asn117Ser)) - GALNS_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.361C>T r.(?) p.(Arg121Cys) Unknown - VUS g.88926367C>T - TRAPPC2L(NM_001318525.2):c.361C>T (p.(Arg121Cys)) - GALNS_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.362_374+22dup r.spl? p.? Unknown - likely benign g.88926368_88926402dup g.88859960_88859994dup TRAPPC2L(NM_016209.3):c.361_362insGCATCCAGTCCAGGTGGGCCCTACTTTCTGTGTCT (p.(Ser125ArgfsTer20)) - GALNS_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.367C>T r.(?) p.(Gln123*) Both (homozygous) - pathogenic (recessive) g.88926373C>T g.88859965C>T - - TRAPPC2L_000003 - PubMed: Abaji 2023 - - Germline yes - - - - DNA SEQ-NG - WES NDD FamPatIV3 PubMed: Abaji 2023 4-generation family, affected brother/sister, unaffected heterozygous parents/relatives M yes France - - - - - 2 Johan den Dunnen
+/. - c.367C>T r.(?) p.(Gln123*) Both (homozygous) - pathogenic (recessive) g.88926373C>T g.88859965C>T - - TRAPPC2L_000003 - PubMed: Abaji 2023 - - Germline yes - - - - DNA SEQ - - NDD FamPatIV4 PubMed: Abaji 2023 sister F - France - - - - - 1 Johan den Dunnen
?/. - c.403A>G r.(?) p.(Met135Val) Unknown - VUS g.88927347A>G - TRAPPC2L(NM_001318525.2):c.400A>G (p.(Met134Val)) - GALNS_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3333del r.(?) p.(=) Unknown - VUS g.88930700del g.88864292del PABPN1L(NM_001080487.2):c.743delT (p.F248Sfs*38) - GALNS_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3334G>C r.(=) p.(=) Unknown - VUS g.88930701G>C g.88864293G>C PABPN1L(NM_001294328.1):c.653C>G (p.P218R) - GALNS_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3338G>C r.(=) p.(=) Unknown - likely benign g.88930705G>C g.88864297G>C PABPN1L(NM_001080487.2):c.737C>G (p.A246G) - GALNS_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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