Full data view for gene ZAP70

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

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     

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     
+?/+? Z0005 transversion (VariO:0316) amino acid substitution (VariO:0021) - 12 c.1554C>A r.(?) p.(Ser518Arg) TK - - - - Unknown - likely pathogenic g.98354291C>A g.97737828C>A - - ZAP70_000006 - PubMed: Chan, A. C et al. (1994) PubMed: Mazer, B et al. (1997) - - Unknown - - - - - DNA ? - - IMD48 - PubMed: Chan, A. C (1994) PubMed: Mazer, B (1997) Relative in ZAP70: Z0009 brother ZAP70: Z0010 sister M ? - - - - - - 1 Gerard C.P. Schaafsma
+?/+? Z0010 transversion (VariO:0316) amino acid substitution (VariO:0021) - 12 c.1554C>A r.(?) p.(Ser518Arg) TK - - - - Unknown - likely pathogenic g.98354291C>A g.97737828C>A - - ZAP70_000006 - PubMed: Chan, A. C et al. (1994) PubMed: Mazer, B et al. (1997) - - Unknown - - - - - DNA ? - - IMD48 - PubMed: Chan, A. C (1994) PubMed: Mazer, B (1997) Relative in ZAP70: Z0005 brother ZAP70: Z0009 brother F ? - - - - - - 1 Gerard C.P. Schaafsma
+?/+? Z0009 transversion (VariO:0316) amino acid substitution (VariO:0021) - 12 c.1554C>A r.(?) p.(Ser518Arg) TK - - - - Unknown - likely pathogenic g.98354291C>A g.97737828C>A - - ZAP70_000006 - PubMed: Chan, A. C et al. (1994) PubMed: Mazer, B et al. (1997) - - Unknown - - - - - DNA ? - - IMD48 - PubMed: Chan, A. C (1994) PubMed: Mazer, B (1997) Relative in ZAP70: Z0005 brother ZAP70: Z0010 sister M ? - - - - - - 1 Gerard C.P. Schaafsma
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