All transcript variants in gene ZAP70

Information The variants shown are described using the NM_001079.3 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
Legend  

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

CpG     

Enzyme activity     

mRNA level     

Protein level     

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     
+?/+? ccg -> cag; 2 Z0006 transversion (VariO:0316) amino acid substitution (VariO:0021) - 3 c.239C>A r.(?) p.(Pro80Gln) SH2_1 - - - - - - g.98340738C>A g.97724275C>A - - ZAP70_000011 - PubMed: Matsuda, S et al. (1999) - - Unknown - - - 0 - Gerard C.P. Schaafsma
./. - - - - - - c.464C>T r.(?) p.(Thr155Met) - - - - - - - g.98341616C>T g.97725153C>T NM_001079.3(ZAP70):c.464C>T p.(Thr155Met) - ZAP70_000013 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - Marjolijn JL Ligtenberg
-?/. - - - - - - c.464C>T r.(?) p.(Thr155Met) - - - - - - likely benign g.98341616C>T g.97725153C>T ZAP70(NM_001079.3):c.464C>T (p.T155M) - ZAP70_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - - - - - - c.563+13C>G r.(=) p.(=) - - - - - - benign g.98341728C>G g.97725265C>G ZAP70(NM_001079.3):c.563+13C>G - ZAP70_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/+? - - DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) amino acid substitution (VariO:0021) - 5 c.574C>T r.(?) p.(Arg192Trp) C-SH2 - - - - - - g.98349356C>T g.97732893C>T - - ZAP70_000001 Compound heterozygous with c.1079G>C, p.Arg360Pro PubMed: Chan 2016 - - Germline ? - - 0 - Jelena Čalyševa
+?/+? - - DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) amino acid substitution (VariO:0021) - 5 c.574C>T r.(?) p.(Arg192Trp) C-SH2 - - - - - - g.98349356C>T g.97732893C>T - - ZAP70_000001 Compound heterozygous with c.1079G>C, p.Arg360Pro PubMed: Chan 2016 - - Germline ? - - 0 - Gerard C.P. Schaafsma
-?/. - - - - - - c.681C>T r.(?) p.(=) - - - - - - likely benign g.98349463C>T g.97733000C>T ZAP70(NM_001079.3):c.681C>T (p.T227=) - ZAP70_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - - - - - - c.791-12C>T r.(=) p.(=) - - - - - - likely benign g.98349748C>T g.97733285C>T ZAP70(NM_001079.3):c.791-12C>T - ZAP70_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - - - - - - c.810C>T r.(?) p.(=) - - - - - - likely benign g.98349779C>T g.97733316C>T ZAP70(NM_001079.3):c.810C>T (p.L270=) - ZAP70_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - - - - - - c.828G>A r.(?) p.(=) - - - - - - likely benign g.98349797G>A g.97733334G>A ZAP70(NM_001079.3):c.828G>A (p.T276=) - ZAP70_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - - - - - - c.835C>T r.(?) p.(His279Tyr) - - - - - - VUS g.98349804C>T g.97733341C>T ZAP70(NM_001079.3):c.835C>T (p.H279Y) - ZAP70_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - - - - - - c.981C>G r.(?) p.(Asp327Glu) - - - - - - likely benign g.98351074C>G g.97734611C>G ZAP70(NM_001079.3):c.981C>G (p.D327E) - ZAP70_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? ctc -> cgc; 2 Z0016 transversion (VariO:0316) amino acid substitution (VariO:0021) - 9 c.1010T>G r.(?) p.(Leu337Arg) - - - - - - - g.98351103T>G g.97734640T>G - - ZAP70_000010 - PubMed: Turul, T et al. (2009) - - Unknown - - - 0 - Gerard C.P. Schaafsma
?/. - - - - - - c.1012C>T r.(?) p.(Leu338Phe) - - - - - - VUS g.98351105C>T g.97734642C>T ZAP70(NM_001079.3):c.1012C>T (p.L338F) - ZAP70_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - - - - - 9 c.1065C>T r.[1064_1082del,=] p.[Val356Serfs*10,=] - - - - - - - g.98351157_98351175del - NM_001079 c.1272C>T - ZAP70_000012 low level of normal splicing Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Gavino 2017, Journal: Gavino 2017 - - Germline yes - - 0 - Johan den Dunnen
+?/+? - - transversion (VariO:0316) amino acid substitution (VariO:0021) - 9 c.1079G>C r.(?) p.(Arg360Pro) kinase - - - - - - g.98351172G>C g.97734709G>C - - ZAP70_000002 Compound heterozygous with c.574C>T, p.Arg192Trp PubMed: Chan 2016 - - Germline ? - - 0 - Gerard C.P. Schaafsma
+?/+? - - transversion (VariO:0316) amino acid substitution (VariO:0021) - 9 c.1079G>C r.(?) p.(Arg360Pro) kinase - - - - - - g.98351172G>C g.97734709G>C - - ZAP70_000002 Compound heterozygous with c.574C>T, p.Arg192Trp PubMed: Chan 2016 - - Germline ? - - 0 - Gerard C.P. Schaafsma
-?/. - - - - - - c.1082+8C>T r.(=) p.(=) - - - - - - likely benign g.98351183C>T g.97734720C>T ZAP70(NM_001079.3):c.1082+8C>T - ZAP70_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - - - - - - c.1289+9C>T r.(=) p.(=) - - - - - - likely benign g.98351928C>T g.97735465C>T ZAP70(NM_001079.3):c.1289+9C>T - ZAP70_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - - - - - - c.1289+20G>C r.(=) p.(=) - - - - - - likely benign g.98351939G>C g.97735476G>C ZAP70(NM_001079.3):c.1289+20G>C - ZAP70_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - - - - - - c.1338C>G r.(?) p.(=) - - - - - - likely benign g.98353984C>G g.97737521C>G ZAP70(NM_001079.3):c.1338C>G (p.S446=) - ZAP70_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/+? cgc -> tgc; 1 Z0012 DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) amino acid substitution (VariO:0021) - 10 c.1393C>T r.(?) p.(Arg465Cys) TK 1 - - - - - g.98354039C>T g.97737576C>T 1602C>T - ZAP70_000007 - PubMed: Elder, M. E et al. (2001) - - Unknown - - - 0 - Gerard C.P. Schaafsma
?/. - - - - - - c.1423G>A r.(?) p.(Ala475Thr) - - - - - - VUS g.98354069G>A g.97737606G>A ZAP70(NM_001079.3):c.1423G>A (p.A475T) - ZAP70_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - - - - - - c.1467C>T r.(?) p.(=) - - - - - - likely benign g.98354113C>T g.97737650C>T ZAP70(NM_001079.3):c.1467C>T (p.D489=) - ZAP70_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - - - - - - c.1467C>T r.(?) p.(=) - - - - - - likely benign g.98354113C>T g.97737650C>T ZAP70(NM_001079.3):c.1467C>T (p.D489=) - ZAP70_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - - - - - - c.1482+11G>T r.(=) p.(=) - - - - - - benign g.98354139G>T g.97737676G>T ZAP70(NM_001079.3):c.1482+11G>T - ZAP70_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/+? - Z0011 DNA deletion (VariO:0141) amphigoric amino acid indel (VariO:0023) - 12 c.1510_1522del r.(?) p.(Lys504Profs*36) TK - - - - - - g.98354247_98354259del g.97737784_97737796del - - ZAP70_000008 - PubMed: Meinl, E et al. (2000) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? - Z0004 DNA deletion (VariO:0141) amphigoric amino acid indel (VariO:0023) - 12 c.1510_1522del r.(?) p.(Lys504Profs*36) TK - - - - - - g.98354247_98354259del g.97737784_97737796del - - ZAP70_000008 - PubMed: Elder, M. E et al. (1994) PubMed: Elder, M. E et al. (1995) PubMed: Elder, M. E.(1996) PubMed: Mazer, B et al. (1997) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? gca -> gta; 2 Z0013 DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) amino acid substitution (VariO:0021) - 12 c.1520C>T r.(?) p.(Ala507Val) TK - - - - - - g.98354257C>T g.97737794C>T - - ZAP70_000009 - PubMed: Noraz, N et al. (2000) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? gca -> gta; 2 Z0008 DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) amino acid substitution (VariO:0021) - 12 c.1520C>T r.(?) p.(Ala507Val) TK - - - - - - g.98354257C>T g.97737794C>T - - ZAP70_000009 - PubMed: Matsuda, S et al. (1999) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? gca -> gta; 2 Z0007 DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) amino acid substitution (VariO:0021) - 12 c.1520C>T r.(?) p.(Ala507Val) TK - - - - - - g.98354257C>T g.97737794C>T - - ZAP70_000009 - PubMed: Matsuda, S et al. (1999) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? gca -> gta; 2 Z0014 DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) amino acid substitution (VariO:0021) - 12 c.1520C>T r.(?) p.(Ala507Val) TK - - - - - - g.98354257C>T g.97737794C>T - - ZAP70_000009 - PubMed: Noraz, N et al. (2000) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? gca -> gta; 2 Z0015 DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) amino acid substitution (VariO:0021) - 12 c.1520C>T r.(?) p.(Ala507Val) TK - - - - - - g.98354257C>T g.97737794C>T - - ZAP70_000009 - PubMed: Turul, T et al. (2009) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? agc -> aga; 3 Z0005 transversion (VariO:0316) amino acid substitution (VariO:0021) - 12 c.1554C>A r.(?) p.(Ser518Arg) TK - - - - - - g.98354291C>A g.97737828C>A - - ZAP70_000006 - PubMed: Chan, A. C et al. (1994) PubMed: Mazer, B et al. (1997) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? agc -> aga; 3 Z0010 transversion (VariO:0316) amino acid substitution (VariO:0021) - 12 c.1554C>A r.(?) p.(Ser518Arg) TK - - - - - - g.98354291C>A g.97737828C>A - - ZAP70_000006 - PubMed: Chan, A. C et al. (1994) PubMed: Mazer, B et al. (1997) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? agc -> aga; 3 Z0009 transversion (VariO:0316) amino acid substitution (VariO:0021) - 12 c.1554C>A r.(?) p.(Ser518Arg) TK - - - - - - g.98354291C>A g.97737828C>A - - ZAP70_000006 - PubMed: Chan, A. C et al. (1994) PubMed: Mazer, B et al. (1997) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/. - - - - - - c.1570A>T r.(?) p.(Ser524Cys) - - - - - - likely pathogenic g.98354307A>T g.97737844A>T - - ZAP70_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - - - - - - c.1610A>G r.(?) p.(Gln537Arg) - - - - - - VUS g.98354347A>G g.97737884A>G ZAP70(NM_001079.3):c.1610A>G (p.(Gln537Arg)) - ZAP70_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/+? - Z0005 DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) sequence retaining amino acid insertion (VariO:0020) - 12i c.1624-11G>A r.(=) p.(Lys541_Lys542insLeuGluGln) TK - - - - - - g.98354447G>A g.97737984G>A - - ZAP70_000003 The mutation causes an altered splicing event, resulting in a 9 nt (cttgagcag) in the mRNA PubMed: Chan, A. C et al. (1994) PubMed: Mazer, B et al. (1997) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? - Z0003 DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) sequence retaining amino acid insertion (VariO:0020) - 12i c.1624-11G>A r.(=) p.(Lys541_Lys542insLeuGluGln) TK - - - - - - g.98354447G>A g.97737984G>A - - ZAP70_000003 The mutation causes an altered splicing event, resulting in a 9 nt (cttgagcag) in the mRNA PubMed: Arpaia, E et al. (1994) PubMed: Mazer, B et al. (1997) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? - Z0002 DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) sequence retaining amino acid insertion (VariO:0020) - 12i c.1624-11G>A r.(=) p.(Lys541_Lys542insLeuGluGln) TK - - - - - - g.98354447G>A g.97737984G>A - - ZAP70_000003 The mutation causes an altered splicing event, resulting in a 9 nt (cttgagcag) in the mRNA PubMed: Arpaia, E et al. (1994) PubMed: Mazer, B et al. (1997) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? - Z0010 DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) sequence retaining amino acid insertion (VariO:0020) - 12i c.1624-11G>A r.(=) p.(Lys541_Lys542insLeuGluGln) TK - - - - - - g.98354447G>A g.97737984G>A - - ZAP70_000003 The mutation causes an altered splicing event, resulting in a 9 nt (cttgagcag) in the mRNA PubMed: Chan, A. C et al. (1994) PubMed: Mazer, B et al. (1997) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? - Z0001 DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) sequence retaining amino acid insertion (VariO:0020) - 12i c.1624-11G>A r.(=) p.(Lys541_Lys542insLeuGluGln) TK - - - - - - g.98354447G>A g.97737984G>A - - ZAP70_000003 The mutation causes an altered splicing event, resulting in a 9 nt (cttgagcag) in the mRNA PubMed: Arpaia, E et al. (1994) PubMed: Mazer, B et al. (1997) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? - Z0009 DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) sequence retaining amino acid insertion (VariO:0020) - 12i c.1624-11G>A r.(=) p.(Lys541_Lys542insLeuGluGln) TK - - - - - - g.98354447G>A g.97737984G>A - - ZAP70_000003 The mutation causes an altered splicing event, resulting in a 9 nt (cttgagcag) in the mRNA PubMed: Chan, A. C et al. (1994) PubMed: Mazer, B et al. (1997) - - Unknown - - - 0 - Gerard C.P. Schaafsma
-?/. - - - - - - c.1638G>A r.(?) p.(=) - - - - - - likely benign g.98354472G>A g.97738009G>A ZAP70(NM_001079.3):c.1638G>A (p.P546=) - ZAP70_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - - - - - - c.1638G>A r.(?) p.(=) - - - - - - likely benign g.98354472G>A g.97738009G>A ZAP70(NM_001079.3):c.1638G>A (p.P546=) - ZAP70_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - - - - - - c.1656C>T r.(?) p.(=) - - - - - - likely benign g.98354490C>T g.97738027C>T ZAP70(NM_001079.3):c.1656C>T (p.I552=) - ZAP70_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - - - - - - c.1656C>T r.(?) p.(=) - - - - - - likely benign g.98354490C>T g.97738027C>T ZAP70(NM_001079.3):c.1656C>T (p.I552=) - ZAP70_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - - - - - - c.1677G>A r.(?) p.(=) - - - - - - benign g.98354511G>A g.97738048G>A ZAP70(NM_001079.3):c.1677G>A (p.E559=) - ZAP70_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/+? tgt -> cgt; 1 Z0017 DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) amino acid substitution (VariO:0021) - 13 c.1690T>C r.(?) p.(Cys564Arg) TK - - - - - - g.98354524T>C g.97738061T>C - - ZAP70_000004 - PubMed: Turul, T et al. (2009) - - Unknown - - - 0 - Gerard C.P. Schaafsma
+?/+? atg -> ttg; 1 Z0006 transversion (VariO:0316) amino acid substitution (VariO:0021) - 13 c.1714A>T r.(?) p.(Met572Leu) TK - - - - - - g.98354548A>T g.97738085A>T - - ZAP70_000005 - PubMed: Matsuda, S et al. (1999) - - Unknown - - - 0 - Gerard C.P. Schaafsma
-?/. - - - - - - c.1845G>A r.(?) p.(=) - - - - - - likely benign g.98355946G>A g.97739483G>A ZAP70(NM_001079.3):c.1845G>A (p.E615=) - ZAP70_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend