Variant (rsID / SNP)

rs104895217

rs104895217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNFRSF1A. Location: chromosome 12, position 6,443,275. 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: 12:6443275
Cytoband: 12p13.31
HGVS: NM_001065.4(TNFRSF1A):c.175T>C (p.Cys59Arg)
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.