Variant (rsID / SNP)

rs147748627

rs147748627 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UNC13D. Location: chromosome 17, position 73,826,445. Clinical significance in the table: Likely benign.

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Reference-table entries

UNC13DLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:73826445
Cytoband: 17q25.1
HGVS: NM_199242.3(UNC13D):c.2828A>G (p.Asn943Ser)
Allele change: Missense_N943S

Associated conditions / phenotypes

Familial hemophagocytic lymphohistiocytosis 3

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.