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Variant (rsID / SNP)

rs143320460

UNC13D

rs143320460 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UNC13D. Location: chromosome 17, position 73,840,395. 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
17:73840395
Cytoband
17q25.1
HGVS
NM_199242.3(UNC13D):c.24G>A (p.Pro8=)
Allele change
Synonymous_P8P

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.