Variant #0000735088 (NC_000006.11:g.138196957A>C, TNFAIP3(NM_006290.3):c.619A>C)

Individual ID 00334860
Chromosome 6
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.138196957A>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID TNFAIP3_000016 See all 2 reported entries
Variant remarks -
Reference Liu submitted, 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00012 View details
Owner Liu Wenbing
Database submission license No license selected
Created by Liu Wenbing
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TNFAIP3 NM_006290.3 ?/. - c.619A>C r.(?) p.(Ile207Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000336089 DNA SEQ-NG PBMC WES - 3 Liu Wenbing