Variant #0000911788 (NC_000002.11:g.98340791C>A, NM_001079.3:c.292C>A (ZAP70))

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.98340791C>A
DNA change (hg38) -
Published as ZAP70(NM_001079.3):c.292C>A (p.L98M), ZAP70(NM_001079.4):c.292C>A (p.L98M)
ISCN -
DB-ID ZAP70_000036 See all 2 reported entries
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) Retrieve
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2023-01-11 15:44:22 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

IDbase Accession Number     

VariO/DNA     

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.292C>A r.(?) p.(Leu98Met) - - - - -


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