Variant (rsID / SNP)

rs777759523

rs777759523 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UNC13D. Location: chromosome 17, position 73,832,419. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

UNC13DPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:73832419
Cytoband: 17q25.1
HGVS: NM_199242.3(UNC13D):c.1389+1G>A
Allele change: Silent

Associated conditions / phenotypes

Familial hemophagocytic lymphohistiocytosis 3|Autoinflammatory syndrome

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.