Variant #0000252424 (NC_000006.11:g.138201259del, TNFAIP3(NM_006290.3):c.1958del)

Chromosome 6
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.138201259del
DNA change (hg38) g.137880122del
Published as TNFAIP3(NM_001270508.1):c.1958delA (p.N653Tfs*44)
ISCN -
DB-ID TNFAIP3_000006
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Database submission license No license selected
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TNFAIP3 NM_006290.3 +?/. - c.1958del r.(?) p.(Asn653ThrfsTer44)