Variant #0000651849 (NC_000006.11:g.138195991A>G, TNFAIP3(NM_006290.3):c.305A>G)

Individual ID 00293992
Chromosome 6
Allele Parent #1
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.138195991A>G
DNA change (hg38) g.137874854A>G
Published as -
ISCN -
DB-ID TNFAIP3_000020 See all 2 reported entries
Variant remarks no interpretation available; 142 heterozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs146534657
Origin Germline
Segregation -
Frequency 142/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01361 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TNFAIP3 NM_006290.3 ?/. - c.305A>G r.(?) p.(Asn102Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000295160 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq