Variant (rsID / SNP)

rs104895228

rs104895228 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNFRSF1A. Location: chromosome 12, position 6,442,930. Clinical significance in the table: Pathogenic.

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Reference-table entries

TNFRSF1APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:6442930
Cytoband: 12p13.31
HGVS: NM_001065.4(TNFRSF1A):c.295T>A (p.Cys99Ser)
Allele change: Silent

Associated conditions / phenotypes

TNF receptor-associated periodic fever syndrome (TRAPS)

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.