Variant (rsID / SNP)

rs2230926

rs2230926 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNFAIP3. Location: chromosome 6, position 138,196,066. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TNFAIP3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:138196066
Cytoband: 6q23.3
HGVS: NM_001270508.2(TNFAIP3):c.380T>G (p.Phe127Cys)
Allele change: Missense_F127C

Associated conditions / phenotypes

Autoinflammatory syndrome, familial, Behcet-like

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.