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Variant (rsID / SNP)

rs117221419

UNC13D

rs117221419 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UNC13D. Location: chromosome 17, position 73,832,723. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

UNC13DConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:73832723
Cytoband
17q25.1
HGVS
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu)
Allele change
Missense_I410L

Associated conditions / phenotypes

Familial hemophagocytic lymphohistiocytosis 3|Autoinflammatory syndrome

Public references

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