Variant (rsID / SNP)

rs2234978

rs2234978 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FAS. Location: chromosome 10, position 90,771,829. Clinical significance in the table: Benign.

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Reference-table entries

FASBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:90771829
Cytoband: 10q23.31
HGVS: NM_000043.6(FAS):c.642T>C (p.Thr214=)
Allele change: Silent

Associated conditions / phenotypes

Autoimmune lymphoproliferative syndrome type 1

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.