Variant #0000676748 (NC_000002.11:g.98341626C>T, NM_001079.3:c.474C>T (ZAP70))

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.98341626C>T
DNA change (hg38) -
Published as ZAP70(NM_001079.3):c.474C>T (p.H158=)
ISCN -
DB-ID ZAP70_000037
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0005 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2020-08-06 14:59:34 +02:00 (CEST)
Date last edited 2020-09-15 15:50:26 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

IDbase Accession Number     

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VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     

CpG     

Enzyme activity     

mRNA level     

Protein level     
ZAP70 NM_001079.3 -?/. - - - - - c.474C>T r.(?) p.(His158=) - - - - -


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