Variant #0000527337 (NC_000006.11:g.138202314G>A, TNFAIP3(NM_006290.3):c.2231G>A)

Chromosome 6
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.138202314G>A
DNA change (hg38) g.137881177G>A
Published as TNFAIP3(NM_001270508.1):c.2231G>A (p.G744D), TNFAIP3(NM_001270508.2):c.2231G>A (p.G744D)
ISCN -
DB-ID TNFAIP3_000007 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) 0.00048 View details
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TNFAIP3 NM_006290.3 -?/. - c.2231G>A r.(?) p.(Gly744Asp)