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Variant (rsID / SNP)

rs56302117

FASLG

rs56302117 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FASLG. Location: chromosome 1, position 172,628,621. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FASLGConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:172628621
Cytoband
1q24.3
HGVS
NM_000639.3(FASLG):c.280T>G (p.Leu94Val)
Allele change
Missense_L94V

Associated conditions / phenotypes

Autoimmune lymphoproliferative syndrome type 1

Public references

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